共 51 条
[1]
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
[J].
Abidi, F. E.
;
Holloway, L.
;
Moore, C. A.
;
Weaver, D. D.
;
Simensen, R. J.
;
Stevenson, R. E.
;
Rogers, R. C.
;
Schwartz, C. E.
.
JOURNAL OF MEDICAL GENETICS,
2008, 45 (12)
:787-793

Abidi, F. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Holloway, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Moore, C. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Dis Control & Prevent, Birth Defects & Dev Disabil, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Weaver, D. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Simensen, R. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Stevenson, R. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Rogers, R. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA

Schwartz, C. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA
[2]
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)
[J].
Adegbola, Abidemi
;
Gao, Hanlin
;
Sommer, Steve
;
Browning, Marsha
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2008, 146A (04)
:505-511

Adegbola, Abidemi
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA

Gao, Hanlin
论文数: 0 引用数: 0
h-index: 0
机构:
City Hope Natl Med Ctr, Dept Mol Genet & Mol Diag, Duarte, CA 91010 USA Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA

Sommer, Steve
论文数: 0 引用数: 0
h-index: 0
机构:
City Hope Natl Med Ctr, Dept Mol Genet & Mol Diag, Duarte, CA 91010 USA
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA

Browning, Marsha
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA
Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
Harvard Partners Ctr Genet & Genom, Boston, MA USA Harvard Univ, Sch Med, Genet Training Program, Boston, MA USA
[3]
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
[J].
Alfares, Ahmed
;
Alfadhel, Majid
;
Wani, Tariq
;
Alsahli, Saud
;
Alluhaydan, Iram
;
Al Mutairi, Fuad
;
Alothaim, Ali
;
Albalwi, Mohammed
;
Al Subaie, Lamia
;
Alturki, Saeed
;
Al-Twaijri, Waleed
;
Alrifai, Muhammad
;
Al-Rumayya, Ahmed
;
Alameer, Seham
;
Faqeeh, Eissa
;
Alasmari, Ali
;
Alsamman, Abdulaziz
;
Tashkandia, Soha
;
Alghamdi, Abdulaziz
;
Alhashem, Amal
;
Tabarki, Brahim
;
AlShahwan, Saad
;
Hundallah, Khalid
;
Wali, Sami
;
Al-Hebbi, Homoud
;
Babiker, Amir
;
Mohamed, Sarar
;
Eyaid, Wafaa
;
Zada, Abdul Ali Peer
.
MOLECULAR GENETICS AND METABOLISM,
2017, 121 (02)
:91-95

Alfares, Ahmed
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia
Qassim Univ, Coll Med, Dept Pediat, Qasim, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alfadhel, Majid
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Wani, Tariq
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alsahli, Saud
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alluhaydan, Iram
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Al Mutairi, Fuad
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alothaim, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Albalwi, Mohammed
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Al Subaie, Lamia
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alturki, Saeed
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Al-Twaijri, Waleed
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pediat, Div Neurol, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alrifai, Muhammad
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pediat, Div Neurol, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Al-Rumayya, Ahmed
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia
King Abdul Aziz Med City, Dept Pediat, Div Neurol, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alameer, Seham
论文数: 0 引用数: 0
h-index: 0
机构:
King Khaled Natl Guard Hosp, Dept Pediat, Jeddah, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Faqeeh, Eissa
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alasmari, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alsamman, Abdulaziz
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Tashkandia, Soha
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alghamdi, Abdulaziz
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Alhashem, Amal
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Tabarki, Brahim
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

AlShahwan, Saad
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Hundallah, Khalid
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Wali, Sami
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Al-Hebbi, Homoud
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Sultan Mil Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

论文数: 引用数:
h-index:
机构:

Mohamed, Sarar
论文数: 0 引用数: 0
h-index: 0
机构:
King Saud Univ Med City, Riyadh, Saudi Arabia
Coll Med, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Eyaid, Wafaa
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia
King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia

Zada, Abdul Ali Peer
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia King Fahad Med City, Pathol & Clin Lab Med Adm, Mol Genet Sect, Riyadh, Saudi Arabia
[4]
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
[J].
Aspromonte, Maria C.
;
Bellini, Mariagrazia
;
Gasparini, Alessandra
;
Carraro, Marco
;
Bettella, Elisa
;
Polli, Roberta
;
Cesca, Federica
;
Bigoni, Stefania
;
Boni, Stefania
;
Carlet, Ombretta
;
Negrin, Susanna
;
Mammi, Isabella
;
Milani, Donatella
;
Peron, Angela
;
Sartori, Stefano
;
Toldo, Irene
;
Soli, Fiorenza
;
Turolla, Licia
;
Stanzial, Franco
;
Benedicenti, Francesco
;
Marino-Buslje, Cristina
;
Tosatto, Silvio C. E.
;
Murgia, Alessandra
;
Leonardi, Emanuela
.
HUMAN MUTATION,
2019, 40 (09)
:1346-1363

Aspromonte, Maria C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Bellini, Mariagrazia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Gasparini, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Biomed Sci, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Carraro, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Biomed Sci, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Bettella, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Polli, Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Cesca, Federica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Bigoni, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Univ S Anna, Med Genet Unit, Ferrara, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Boni, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
San Martino Hosp, Med Genet Unit, Belluno, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Carlet, Ombretta
论文数: 0 引用数: 0
h-index: 0
机构:
Sci Inst IRCCS E Medea, Epilepsy & Child Neurophysiol Unit, Treviso, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Negrin, Susanna
论文数: 0 引用数: 0
h-index: 0
机构:
Sci Inst IRCCS E Medea, Epilepsy & Child Neurophysiol Unit, Treviso, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Mammi, Isabella
论文数: 0 引用数: 0
h-index: 0
机构:
Dolo Gen Hosp, Med Genet Unit, Venice, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

论文数: 引用数:
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机构:

Peron, Angela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Santi Paolo Carlo Hosp, Epilepsy Ctr, Dept Hlth Sci,Child Neuropsychiat Unit, Milan, Italy
Univ Utah, Sch Med, Dept Pediat, Div Med Genet, Salt Lake City, UT USA Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Sartori, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Padova, Dept Woman & Child Hlth, Paediat Neurol Unit, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Toldo, Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Padova, Dept Woman & Child Hlth, Paediat Neurol Unit, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Soli, Fiorenza
论文数: 0 引用数: 0
h-index: 0
机构:
APSS Trento, Med Genet Dept, Trento, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Turolla, Licia
论文数: 0 引用数: 0
h-index: 0
机构:
Local Hlth Author, Med Genet Unit, Treviso, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Stanzial, Franco
论文数: 0 引用数: 0
h-index: 0
机构:
Reg Hosp Bolzano, Dept Pediat, Genet Counseling Serv, Bolzano, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Benedicenti, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Reg Hosp Bolzano, Dept Pediat, Genet Counseling Serv, Bolzano, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Marino-Buslje, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn Inst Leloir, Bioinformat Unit, Buenos Aires, DF, Argentina Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Tosatto, Silvio C. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Biomed Sci, Padua, Italy
CNR, Inst Neurosci, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Murgia, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy

Leonardi, Emanuela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
Fdn Ist Ric Pediat, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Mol Genet Neurodev, Cso Stati Uniti 4, I-35129 Padua, Italy
[5]
Three New Loci for Determining X Chromosome Inactivation Patterns
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Bertelsen, Birgitte
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Tumer, Zeynep
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Ravn, Kirstine
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JOURNAL OF MOLECULAR DIAGNOSTICS,
2011, 13 (05)
:537-540

Bertelsen, Birgitte
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark

Tumer, Zeynep
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark

Ravn, Kirstine
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, DK-2600 Glostrup, Denmark
[6]
Neural Growth Hormone Implicated in Body Weight Sex Differences
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Bonthuis, Paul J.
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Rissman, Emilie F.
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ENDOCRINOLOGY,
2013, 154 (10)
:3826-3835

Bonthuis, Paul J.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Virginia, Sch Med, Dept Biochem & Mol Genet, Charlottesville, VA 22908 USA

Rissman, Emilie F.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Virginia, Sch Med, Dept Biochem & Mol Genet, Charlottesville, VA 22908 USA
[7]
The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders
[J].
Brand, Boudewien A.
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Blesson, Alyssa E.
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Smith-Hicks, Constance L.
.
BRAIN SCIENCES,
2021, 11 (07)

Brand, Boudewien A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA

Blesson, Alyssa E.
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA

Smith-Hicks, Constance L.
论文数: 0 引用数: 0
h-index: 0
机构:
Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA
Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21287 USA Kennedy Krieger Inst, Ctr Autism & Related Disorders, Baltimore, MD 21205 USA
[8]
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
[J].
Brookes, Emily
;
Laurent, Benoit
;
Ounap, Katrin
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Carroll, Renee
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Moeschler, John B.
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Field, Michael
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Schwartz, Charles E.
;
Gecz, Jozef
;
Shi, Yang
.
HUMAN MOLECULAR GENETICS,
2015, 24 (10)
:2861-2872

Brookes, Emily
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA
Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

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Carroll, Renee
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5000, Australia
Univ Adelaide, Robinson Inst, Adelaide, SA 5000, Australia Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

Moeschler, John B.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisel Sch Med, Dept Pediat, Lebanon, NH 03756 USA Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

Field, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Hunter Genet, GOLD NSW, Newcastle, NSW, Australia Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

Schwartz, Charles E.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

Gecz, Jozef
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5000, Australia
Univ Adelaide, Robinson Inst, Adelaide, SA 5000, Australia Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA

Shi, Yang
论文数: 0 引用数: 0
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机构:
Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA
Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA 02115 USA
[9]
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
[J].
Carmignac, Virginie
;
Nambot, Sophie
;
Lehalle, Daphne
;
Callier, Patrick
;
Moortgat, Stephanie
;
Benoit, Valerie
;
Ghoumid, Jamal
;
Delobel, Bruno
;
Smol, Thomas
;
Thuillier, Caroline
;
Zordan, Cecile
;
Naudion, Sophie
;
Bienvenu, Thierry
;
Touraine, Renaud
;
Ramond, Francis
;
Zweier, Christiane
;
Reis, Andre
;
Kraus, Cornelia
;
Nizon, Mathilde
;
Cogne, Benjamin
;
Verloes, Alain
;
Tran Mau-Them, Frederic
;
Sorlin, Arthur
;
Jouan, Thibaud
;
Duffourd, Yannis
;
Tisserant, Emilie
;
Philippe, Christophe
;
Vitobello, Antonio
;
Thevenon, Julien
;
Faivre, Laurence
;
Thauvin-Robinet, Christel
.
CLINICAL GENETICS,
2020, 98 (01)
:43-55

Carmignac, Virginie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Ctr Reference Malad Genet Express Cutanee, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Nambot, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France
CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Lehalle, Daphne
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France
CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Callier, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Moortgat, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Benoit, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

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Delobel, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Vincent De Paul, Ctr Genet Chromosom, GHICL, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Smol, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille, Malad RAres DEv Embryonnaire & MEtab, RADEME, EA 7364, Lille, France
CHU Lille, Inst Genet Med, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Thuillier, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Inst Genet Med, Lille, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Zordan, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Serv Genet Clin, Bordeaux, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Naudion, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Serv Genet Clin, Bordeaux, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Bienvenu, Thierry
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Inst Psychiat & Neurosci Paris, U1266, Paris, France
Univ Paris, Paris, France
Grp Univ Paris Ctr, AP HP, Lab Biochim & Genet Mol, Site Cochin, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Touraine, Renaud
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Etienne, Ctr Reference Anomalies Dev, Serv Genet Clin Chromosom & Mol, St Priest En Jarez, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Ramond, Francis
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Etienne, Ctr Reference Anomalies Dev, Serv Genet Clin Chromosom & Mol, St Priest En Jarez, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Zweier, Christiane
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Reis, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Kraus, Cornelia
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Nizon, Mathilde
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Nantes, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Cogne, Benjamin
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Genet Med, Nantes, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Verloes, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Dept Genet, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Tran Mau-Them, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Sorlin, Arthur
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, Dijon, France
CHU Dijon Bourgogne, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Jouan, Thibaud
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Duffourd, Yannis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Tisserant, Emilie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Philippe, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Vitobello, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Thevenon, Julien
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Faivre, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France

Thauvin-Robinet, Christel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
CHU Dijon Bourgogne, Unite Fonctionnelle Diagnost Innovat Genom Malad, Lab Genet Chromosom & Mol, Plateau Tech Biol, Dijon, France
CHU Dijon, Federat Hosp Univ Med Translat & Anomalies Dev FH, Dijon, France
Univ Bourgogne Franche Comte, Dijon, France
Hop Robert Debre, Dept Genet, Paris, France Univ Bourgogne, INSERM, Equipe Genet Anomalies Dev, UMR1231, Dijon, France
[10]
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
[J].
Cerminara, Maria
;
Spirito, Giovanni
;
Pisciotta, Livia
;
Squillario, Margherita
;
Servetti, Martina
;
Divizia, Maria Teresa
;
Lerone, Margherita
;
Berloco, Bianca
;
Boeri, Silvia
;
Nobili, Lino
;
Vozzi, Diego
;
Sanges, Remo
;
Gustincich, Stefano
;
Puliti, Aldamaria
.
FRONTIERS IN GENETICS,
2021, 12

Cerminara, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Spirito, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构:
Int Sch Adv Studies SISSA, Neurosci Area, Trieste, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Pisciotta, Livia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
Azienda Socio Sanitaria Terr Fatebenefrateli Sacc, Child Neuropsychiat Unit, Milan, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Squillario, Margherita
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Servetti, Martina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Divizia, Maria Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Lerone, Margherita
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Berloco, Bianca
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Boeri, Silvia
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Nobili, Lino
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Child Neuropsychiat Unit, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Vozzi, Diego
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Italiano Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Sanges, Remo
论文数: 0 引用数: 0
h-index: 0
机构:
Int Sch Adv Studies SISSA, Neurosci Area, Trieste, Italy
Ist Italiano Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Gustincich, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Italiano Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

Puliti, Aldamaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
Ist Ricovero & Cura Carattere Sci IRCCS, Ist Giannina Gaslini, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy