共 53 条
[1]
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
[J].
Ansar, Muhammad
;
Ranza, Emmanuelle
;
Shetty, Madhur
;
Paracha, Sohail A.
;
Azam, Maleeha
;
Kern, Ilse
;
Iwaszkiewicz, Justyna
;
Farooq, Omer
;
Pournaras, Constantin J.
;
Malcles, Ariane
;
Kecik, Mateusz
;
Rivolta, Carlo
;
Muzaffar, Waqar
;
Qurban, Aziz
;
Ali, Liaqat
;
Aggoun, Yacine
;
Santoni, Federico A.
;
Makrythanasis, Periklis
;
Ahmed, Jawad
;
Qamar, Raheel
;
Sarwar, Muhammad T.
;
Henry, L. Keith
;
Antonarakis, Stylianos E.
.
HUMAN MOLECULAR GENETICS,
2020, 29 (04)
:618-623

Ansar, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ranza, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Shetty, Madhur
论文数: 0 引用数: 0
h-index: 0
机构:
Univ North Dakota, Sch Med & Hlth Sci, Dept Biomed Sci, Grand Forks, ND USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Paracha, Sohail A.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Azam, Maleeha
论文数: 0 引用数: 0
h-index: 0
机构:
COMSATS Univ, Fac Sci, Dept Biosci, Islamabad, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Kern, Ilse
论文数: 0 引用数: 0
h-index: 0
机构:
Geneva Univ Hosp, Childrens Hosp, Pediat Subspecialties Serv, Pediat Nephrol & Metab Unit, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

论文数: 引用数:
h-index:
机构:

Farooq, Omer
论文数: 0 引用数: 0
h-index: 0
机构:
Bahria Univ Med & Dent Coll, Karachi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Pournaras, Constantin J.
论文数: 0 引用数: 0
h-index: 0
机构:
Hirslanden Clin La Colline, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Malcles, Ariane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Geneva, Dept Ophthalmol, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Kecik, Mateusz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Geneva, Dept Ophthalmol, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

论文数: 引用数:
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机构:

Muzaffar, Waqar
论文数: 0 引用数: 0
h-index: 0
机构:
Armed Forces Inst Ophthalmol, Rawalpindi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Qurban, Aziz
论文数: 0 引用数: 0
h-index: 0
机构:
Armed Forces Inst Ophthalmol, Rawalpindi, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ali, Liaqat
论文数: 0 引用数: 0
h-index: 0
机构:
COMSATS Univ, Fac Sci, Dept Biosci, Islamabad, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Aggoun, Yacine
论文数: 0 引用数: 0
h-index: 0
机构:
Geneva Univ Hosp, Pediat Cardiol, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Santoni, Federico A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Makrythanasis, Periklis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ahmed, Jawad
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Qamar, Raheel
论文数: 0 引用数: 0
h-index: 0
机构:
COMSATS Univ, Fac Sci, Dept Biosci, Islamabad, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Sarwar, Muhammad T.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Henry, L. Keith
论文数: 0 引用数: 0
h-index: 0
机构:
Univ North Dakota, Sch Med & Hlth Sci, Dept Biomed Sci, Grand Forks, ND USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
[2]
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
[J].
Ansar, Muhammad
;
Chung, Hyung-lok
;
Al-Otaibi, Ali
;
Elagabani, Mohammad Nael
;
Ravenscroft, Thomas A.
;
Paracha, Sohail A.
;
Scholz, Ralf
;
Magid, Tayseer Abdel
;
Sarwar, Muhammad T.
;
Shah, Sayyed Fahim
;
Qaisar, Azhar Ali
;
Makrythanasis, Periklis
;
Marcogliese, Paul C.
;
Kamsteeg, Erik-Jan
;
Falconnet, Emilie
;
Ranza, Emmanuelle
;
Santoni, Federico A.
;
Aldhalaan, Hesham
;
Al-Asmari, Ali
;
Faqeih, Eissa Ali
;
Ahmed, Jawad
;
Kornau, Hans-Christian
;
Bellen, Hugo J.
;
Antonarakis, Stylianos E.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2019, 105 (05)
:907-920

Ansar, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Chung, Hyung-lok
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
Howard Hughes Med Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Al-Otaibi, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Natl Neurosci Inst, Riyadh 12231, Saudi Arabia Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Elagabani, Mohammad Nael
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Neurosci Res Ctr NWFZ, D-10117 Berlin, Germany
Free Univ Berlin, Dept Biol Chem & Pharm, D-14195 Berlin, Germany Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ravenscroft, Thomas A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Paracha, Sohail A.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Scholz, Ralf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hamburg, Ctr Mol Neurobiol ZMNH, D-20251 Hamburg, Germany Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Magid, Tayseer Abdel
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Natl Neurosci Inst, Riyadh 12231, Saudi Arabia Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Sarwar, Muhammad T.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Shah, Sayyed Fahim
论文数: 0 引用数: 0
h-index: 0
机构:
KMU Inst Med Sci, Dept Med, Kohat 26000, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Qaisar, Azhar Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Lady Reading Hosp, Dept Radiol, Peshawar 25000, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Makrythanasis, Periklis
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Athens, Biomed Res Fdn, Athens 11527, Greece Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Marcogliese, Paul C.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Kamsteeg, Erik-Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Falconnet, Emilie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ranza, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
Swiss Inst Genom Med, Medigenome, CH-1207 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Santoni, Federico A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, CH-1011 Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Aldhalaan, Hesham
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Riyadh 12713, Saudi Arabia Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Al-Asmari, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Hosp, Dept Med Genet, Riyadh 12231, Saudi Arabia Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Faqeih, Eissa Ali
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Childrens Hosp, Dept Med Genet, Riyadh 12231, Saudi Arabia Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Ahmed, Jawad
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Kornau, Hans-Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Univ Med Berlin, Neurosci Res Ctr NWFZ, D-10117 Berlin, Germany
Univ Hamburg, Ctr Mol Neurobiol ZMNH, D-20251 Hamburg, Germany Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Bellen, Hugo J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
Howard Hughes Med Inst, Houston, TX 77030 USA
Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA
Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
[3]
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
[J].
Ansar, Muhammad
;
Ullah, Farid
;
Paracha, Sohail A.
;
Adams, Darius J.
;
Lai, Abbe
;
Pais, Lynn
;
Iwaszkiewicz, Justyna
;
Millan, Francisca
;
Sarwar, Muhammad T.
;
Agha, Zehra
;
Shah, Sayyed Fahim
;
Qaisar, Azhar Ali
;
Falconnet, Emilie
;
Zoete, Vincent
;
Ranza, Emmanuelle
;
Makrythanasis, Periklis
;
Santoni, Federico A.
;
Ahmed, Jawad
;
Katsanis, Nicholas
;
Walsh, Christopher
;
Davis, Erica E.
;
Antonarakis, Stylianos E.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2019, 104 (06)
:1073-1087

Ansar, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Ullah, Farid
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27701 USA
Natl Inst Biotechnol & Genet Engn, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad 38000, Pakistan
Pakistan Inst Engn & Appl Sci, Islamabad 45650, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Paracha, Sohail A.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Adams, Darius J.
论文数: 0 引用数: 0
h-index: 0
机构:
Goryeb Childrens Hosp, Atlantic Hlth Syst, Morristown, NJ 07960 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Lai, Abbe
论文数: 0 引用数: 0
h-index: 0
机构:
Howard Hughes Med Inst, Chevy Chase, MD 20815 USA
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Ctr Life Sci, Dept Neurol, Boston, MA 02115 USA
Harvard Med Sch, Ctr Life Sci, Dept Pediat, Boston, MA 02115 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Pais, Lynn
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst MIT, Med & Populat Genet Program, Cambridge, MA 02142 USA
Harvard Univ, Ctr Mendelian Genom, Cambridge, MA 02142 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

论文数: 引用数:
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Millan, Francisca
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Sarwar, Muhammad T.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Agha, Zehra
论文数: 0 引用数: 0
h-index: 0
机构:
COMSATS Univ, Dept Biosci, Islamabad 45500, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Shah, Sayyed Fahim
论文数: 0 引用数: 0
h-index: 0
机构:
KMU Inst Med Sci, Dept Med, Kohat 26000, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Qaisar, Azhar Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Lady Reading Hosp, Radiol Dept, Peshawar 25000, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Falconnet, Emilie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

论文数: 引用数:
h-index:
机构:

Ranza, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
Swiss Inst Genom Med, Medigenome, CH-1207 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Makrythanasis, Periklis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland
Acad Athens, Biomed Res Fdn, Athens 11527, Greece Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Santoni, Federico A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland
Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, CH-1011 Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Ahmed, Jawad
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

论文数: 引用数:
h-index:
机构:

Walsh, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Howard Hughes Med Inst, Chevy Chase, MD 20815 USA
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Ctr Life Sci, Dept Neurol, Boston, MA 02115 USA
Harvard Med Sch, Ctr Life Sci, Dept Pediat, Boston, MA 02115 USA
Broad Inst MIT, Med & Populat Genet Program, Cambridge, MA 02142 USA
Harvard Univ, Ctr Mendelian Genom, Cambridge, MA 02142 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Davis, Erica E.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27701 USA Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1206 Geneva, Switzerland
[4]
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
[J].
Ansar, Muhammad
;
Paracha, Sohail Aziz
;
Serretti, Alessandro
;
Sarwar, Muhammad T.
;
Khan, Jamshed
;
Ranza, Emmanuelle
;
Falconnet, Emilie
;
Iwaszkiewicz, Justyna
;
Shah, Sayyed Fahim
;
Qaisar, Azhar Ali
;
Santoni, Federico A.
;
Zoete, Vincent
;
Megarbane, Andre
;
Ahmed, Jawad
;
Colombo, Roberto
;
Makrythanasis, Periklis
;
Antonarakis, Stylianos E.
.
HUMAN MOLECULAR GENETICS,
2019, 28 (06)
:972-979

Ansar, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Paracha, Sohail Aziz
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

论文数: 引用数:
h-index:
机构:

Sarwar, Muhammad T.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Khan, Jamshed
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Ranza, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Falconnet, Emilie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

论文数: 引用数:
h-index:
机构:

Shah, Sayyed Fahim
论文数: 0 引用数: 0
h-index: 0
机构:
KMU Inst Med Sci, Dept Med, Kohat 26000, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Qaisar, Azhar Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Lady Reading Hosp, Radiol Dept, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Santoni, Federico A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, CH-1011 Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

论文数: 引用数:
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机构:

Megarbane, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Jerome Lejeune, F-75015 Paris, France Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Ahmed, Jawad
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Colombo, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ IRCCS Policlin Gemelli, Inst Clin Biochem, Fac Med, I-00136 Rome, Italy
Niguarda Ca Granda Metropolitan Hosp, Ctr Study Rare Hereditary Dis, I-20162 Milan, Italy Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Makrythanasis, Periklis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Acad Athens, Biomed Res Fdn, Athens 11527, Greece Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
[5]
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
[J].
Ansar, Muhammad
;
Chung, Hyung-lok
;
Taylor, Rachel L.
;
Nazir, Aamir
;
Imtiaz, Samina
;
Sarwar, Muhammad T.
;
Manousopoulou, Alkistis
;
Makrythanasis, Periklis
;
Saeed, Sondas
;
Falconnet, Emilie
;
Guipponi, Michel
;
Pournaras, Constantin J.
;
Ansari, Maqsood A.
;
Ranza, Emmanuelle
;
Santoni, Federico A.
;
Ahmed, Jawad
;
Shah, Inayat
;
Gul, Khitab
;
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AMERICAN JOURNAL OF HUMAN GENETICS,
2018, 103 (04)
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Ansar, Muhammad
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Chung, Hyung-lok
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Taylor, Rachel L.
论文数: 0 引用数: 0
h-index: 0
机构:
St Marys Hosp, Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England
Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci Neurosci & Mental Hlth Dom, Manchester M13 9PL, Lancs, England Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Nazir, Aamir
论文数: 0 引用数: 0
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机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Imtiaz, Samina
论文数: 0 引用数: 0
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机构:
Univ Karachi, Dept Genet, Karachi 75270, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Sarwar, Muhammad T.
论文数: 0 引用数: 0
h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Manousopoulou, Alkistis
论文数: 0 引用数: 0
h-index: 0
机构:
St Marys Hosp, Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England
Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci Neurosci & Mental Hlth Dom, Manchester M13 9PL, Lancs, England Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Makrythanasis, Periklis
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h-index: 0
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Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Acad Athens, Biomed Res Fdn, Athens 11527, Greece Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Saeed, Sondas
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Univ Karachi, Dept Genet, Karachi 75270, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Falconnet, Emilie
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Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Guipponi, Michel
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Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Pournaras, Constantin J.
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Hirslanden Clin La Colline, CH-1206 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Ansari, Maqsood A.
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Univ Karachi, Dept Genet, Karachi 75270, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Ranza, Emmanuelle
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Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Santoni, Federico A.
论文数: 0 引用数: 0
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机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, CH-1011 Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Ahmed, Jawad
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Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Shah, Inayat
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Khyber Med Univ, Inst Basic Med Sci, Peshawar 25100, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Gul, Khitab
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机构:
Univ Karachi, Dept Genet, Karachi 75270, Pakistan
Mohammad Ali Jinnah Univ, Fac Life Sci, Dept Bio Sci, Karachi 75400, Pakistan Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Black, Graeme C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
St Marys Hosp, Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England
Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci Neurosci & Mental Hlth Dom, Manchester M13 9PL, Lancs, England Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Bellen, Hugo J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
Howard Hughes Med Inst, Houston, TX 77030 USA
Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA
Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1205 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland
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Ansar, Muhammad
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Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Riazuddin, Saima
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h-index: 0
机构:
Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA
Shaheed Zulfiqar Ali Bhutto Med Univ, Pakistan Inst Med Sci, Ctr Genet Dis, Islamabad, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Sarwar, Muhammad Tahir
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h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Makrythanasis, Periklis
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Paracha, Sohail Aziz
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h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Iqbal, Zafar
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h-index: 0
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Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Oslo Univ Hosp, Dept Neurol, Oslo, Norway Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Khan, Jamshed
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h-index: 0
机构:
Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Assir, Muhammad Zaman
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h-index: 0
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Shaheed Zulfiqar Ali Bhutto Med Univ, Pakistan Inst Med Sci, Ctr Genet Dis, Islamabad, Pakistan
Univ Hlth Sci, Allama Iqbal Med Coll, Lahore, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Hussain, Mureed
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h-index: 0
机构:
Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Razzaq, Attia
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h-index: 0
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Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Polla, Daniel Lopo
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h-index: 0
机构:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
Minist Educ Brazil, CAPES Fdn, Ctr Genet Dis, Brasilia, DF, Brazil Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Taj, Abid Sohail
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机构:
Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Holmgren, Asbjorn
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Oslo Univ Hosp, Dept Med Genet, Oslo, Norway
Univ Oslo, Oslo, Norway Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Batool, Naila
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Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

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机构:

论文数: 引用数:
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机构:

de Brouwer, Arjan P. M.
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Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Guipponi, Michel
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h-index: 0
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Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Hanquinet, Sylviane
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Geneva Univ Childrens Hosp, Dept Pediat Radiol, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

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机构:

Santoni, Federico A.
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Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

论文数: 引用数:
h-index:
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Ahmed, Jawad
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Khyber Med Univ, Inst Basic Med Sci, Dept Mol Biol & Genet, Peshawar, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Riazuddin, Sheikh
论文数: 0 引用数: 0
h-index: 0
机构:
Shaheed Zulfiqar Ali Bhutto Med Univ, Pakistan Inst Med Sci, Ctr Genet Dis, Islamabad, Pakistan
Univ Hlth Sci, Allama Iqbal Med Coll, Lahore, Pakistan Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

van Bokhoven, Hans
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h-index: 0
机构:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

Antonarakis, Stylianos E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland
IGE3 Inst Genet & Genom Geneva, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
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Ansar, Muhammad
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h-index: 0
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Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Chung, Hyunglok
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h-index: 0
机构:
Baylor Coll Med, Dept Human Mol Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Waryah, Yar M.
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h-index: 0
机构:
Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro, Pakistan Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Makrythanasis, Periklis
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
Acad Athens, Biomed Res Fdn, Athens, Greece Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Falconnet, Emilie
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Rao, Ali Raza
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h-index: 0
机构:
Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro, Pakistan Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Guipponi, Michel
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Narsani, Ashok K.
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h-index: 0
机构:
Liaquat Univ Med & Hlth Sci, Inst Ophthalmol, Jamshoro, Pakistan Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Fingerhut, Ralph
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h-index: 0
机构:
Univ Childrens Hosp, Swiss Newborn Screening Lab, CH-8032 Zurich, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Santoni, Federico A.
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
Univ Hosp Lausanne, Dept Endocrinol Diabet & Metab, Lausanne, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Ranza, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Waryah, Ali M.
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h-index: 0
机构:
Liaquat Univ Med & Hlth Sci, Med Res Ctr, Mol Biol & Genet Dept, Jamshoro, Pakistan Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Bellen, Hugo J.
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h-index: 0
机构:
Baylor Coll Med, Dept Human Mol Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
Howard Hughes Med Inst, Houston, TX 77030 USA Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland

Antonarakis, Stylianos E.
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h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
Univ Hosp Geneva, Serv Genet Med, CH-1211 Geneva, Switzerland
iGE3 Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Med Sch, CH-1211 Geneva, Switzerland
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CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA

BOEHM, CD
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h-index: 0
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CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA

GIARDINA, PJV
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CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA

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BLOUIN, JL
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