共 191 条
[1]
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
[J].
Abdel-Salam, Ghada M. H.
;
Schaffer, Ashleigh E.
;
Zaki, Maha S.
;
Dixon-Salazar, Tracy
;
Mostafa, Inas S.
;
Afifi, Hanan H.
;
Gleeson, Joseph G.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2012, 158A (11)
:2788-2796

Abdel-Salam, Ghada M. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Schaffer, Ashleigh E.
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h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Zaki, Maha S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Dixon-Salazar, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Mostafa, Inas S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Orodental Genet Dept, Human Genet & Genome Res Div, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Afifi, Hanan H.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Gleeson, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt
[2]
In search of triallelism in Bardet-Biedl syndrome
[J].
Abu-Safieh, Leen
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Al-Anazi, Shamsa
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Al-Abdi, Lama
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Hashem, Mais
;
Alkuraya, Hisham
;
Alamr, Mushari
;
Sirelkhatim, Mugtaba O.
;
Al-Hassnan, Zuhair
;
Alkuraya, Basim
;
Mohamed, Jawahir Y.
;
Al-Salem, Ahmad
;
Alrashed, May
;
Faqeih, Eissa
;
Softah, Ameen
;
Al-Hashem, Amal
;
Wali, Sami
;
Rahbeeni, Zuhair
;
Alsayed, Moeen
;
Khan, Arif O.
;
Al-Gazali, Lihadh
;
Taschner, Peter E. M.
;
Al-Hazzaa, Selwa
;
Alkuraya, Fowzan S.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2012, 20 (04)
:420-427

Abu-Safieh, Leen
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Anazi, Shamsa
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Abdi, Lama
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Hashem, Mais
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alkuraya, Hisham
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
King Khalid Eye Specialist Hosp, Dept Retina, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alamr, Mushari
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Sirelkhatim, Mugtaba O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Hassnan, Zuhair
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alkuraya, Basim
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Mohamed, Jawahir Y.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Salem, Ahmad
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alrashed, May
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Faqeih, Eissa
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Softah, Ameen
论文数: 0 引用数: 0
h-index: 0
机构:
King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Hashem, Amal
论文数: 0 引用数: 0
h-index: 0
机构:
Riyadh Mil Hosp, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Wali, Sami
论文数: 0 引用数: 0
h-index: 0
机构:
Riyadh Mil Hosp, Dept Pediat, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Rahbeeni, Zuhair
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alsayed, Moeen
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Khan, Arif O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
King Khalid Eye Specialist Hosp, Dept Retina, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Gazali, Lihadh
论文数: 0 引用数: 0
h-index: 0
机构:
Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Taschner, Peter E. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Dept Human Genet, Ctr Human & Clin Genet, Med Ctr, NL-2300 RA Leiden, Netherlands King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Al-Hazzaa, Selwa
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Surg, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia
King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
[3]
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
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Agarwal, AK
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Simha, V
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Oral, EA
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Moran, SA
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Gurakan, F
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Arslanian, SA
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Klar, A
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2003, 88 (10)
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Agarwal, AK
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Simha, V
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Oral, EA
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机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Moran, SA
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Gorden, P
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

O'Rahilly, S
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Zaidi, Z
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Gurakan, F
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Arslanian, SA
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Klar, A
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Ricker, A
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机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

White, NH
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Bindl, L
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Herbst, K
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Kennel, K
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Patel, SB
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Al-Gazali, L
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h-index: 0
机构: Univ Texas, SW Med Ctr, Dept Internal Med, Div Nutr & Metab Dis, Dallas, TX 75390 USA

Garg, A
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GATA6 haploinsufficiency causes pancreatic agenesis in humans
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Allen, Hana Lango
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NATURE GENETICS,
2012, 44 (01)
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Allen, Hana Lango
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h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Flanagan, Sarah E.
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h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Shaw-Smith, Charles
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h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

De Franco, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Akerman, Ildem
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Invest August Pi & Sunyer IDIBAPS, Genom Programming Beta Cells Lab, Barcelona, Spain
Ctr Invest Biomed Red Diabet & Enfermedades Metab, Barcelona, Spain
Hosp Clin Barcelona, Dept Endocrinol & Nutr, Barcelona, Spain Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Caswell, Richard
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h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Ferrer, Jorge
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h-index: 0
机构:
Inst Invest August Pi & Sunyer IDIBAPS, Genom Programming Beta Cells Lab, Barcelona, Spain
Ctr Invest Biomed Red Diabet & Enfermedades Metab, Barcelona, Spain
Hosp Clin Barcelona, Dept Endocrinol & Nutr, Barcelona, Spain Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Hattersley, Andrew T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England

Ellard, Sian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England Univ Exeter, Peninsula Coll Med & Dent, Inst Biomed & Clin Sci, Exeter, Devon, England
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A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
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Amr, Sami
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Zhang, Min
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

Xia, Xia-Juan
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

Shows, Kathryn H.
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

Ajlouni, Kamel
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

Pandya, Arti
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

Satin, Leslie S.
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

El-Shanti, Hatem
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机构: Virginia Commonwealth Univ, Dept Human Genet, Richmond, VA 23284 USA

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Awa, W. L.
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Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Schober, E.
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h-index: 0
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Med Univ Vienna, Dept Pediat, A-1090 Vienna, Austria Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Wiegand, S.
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Charite, D-13353 Berlin, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Herwig, J.
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Goethe Univ Frankfurt, Childrens Hosp, D-60590 Frankfurt, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Meissner, T.
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Univ Childrens Hosp, Dept Gen Pediat, D-40225 Dusseldorf, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Schmidt, F.
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h-index: 0
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Med Univ, Dept Pediat, D-06120 Halle, Salle, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Molz, E.
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h-index: 0
机构:
Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany

Holl, R. W.
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机构:
Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany Univ Ulm, Inst Epidemiol & Med Biometry, D-89081 Ulm, Germany
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Babenko, Andrey P.
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Babenko, Andrey P.
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

Polak, Michel
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Cave, Helene
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

Busiah, Kanetee
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

Scharfmann, Raphael
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

Bryan, Joseph
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France

Froguel, Philippe
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机构: Hop Necker Enfants Malad, INSERM, U0363, Fac Med, Paris, France