|
🐜
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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
26 auth.
Yun Li,
B. Pawlik,
N. Elcioglu,
M. Aglan,
H. Kayserili,
G. Yigit,
F. Percin,
F. Goodman,
G. Nürnberg,
A. Cenani,,
J. Urquhart,
B. Chung,
S. Ismail,
K. Amr,
A. Aslanger,
...
C. Becker,
C. Netzer,
P. Scambler,
W. Eyaid,
H. Hamamy,
J. Clayton-Smith,
R. Hennekam,
P. Nürnberg,
J. Herz,
S. Temtamy,
B. Wollnik
|
7 |
2010 |
7
🐜
|
|
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Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
10 auth.
R. Shaheen,
G. Abdel-Salam,
Michael P Guy,
Rana Alomar,
M. Abdel-Hamid,
H. Afifi,
...
S. Ismail,
Bayoumi A. Emam,
E. Phizicky,
F. Alkuraya
|
7 |
2015 |
7
🐜
|
|
🐜
|
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
43 auth.
N. Akizu,
Vincent Cantagrel,
M. Zaki,
L. Al-Gazali,
Xin Wang,
R. O. Rosti,
E. Dikoglu,
A. Gelot,
Başak Rosti,
K. Vaux,
Eric M. Scott,
J. Silhavy,
J. Schroth,
Brett R Copeland,
A. Schaffer,
...
P. Gordts,
J. Esko,
M. Buschman,
Seth J. Fields,
G. Napolitano,
R. Ozgul,
M. Sagiroglu,
M. Azam,
S. Ismail,
M. Aglan,
L. Selim,
I. Gamal,
Sawsan Abdel Hadi,
Amera El Badawy,
A. Sadek,
F. Mojahedi,
H. Kayserili,
A. Masri,
L. Bastaki,
S. Temtamy,
U. Müller,
I. Desguerre,
J. Casanova,
A. Dursun,
M. Gunel,
S. Gabriel,
P. de Lonlay,
J. Gleeson
|
6 |
2015 |
6
🐜
|
|
🐜
|
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
10 auth.
D. Monk,
L. Bentley,
M. Hitchins,
Rachael A. Myler,
J. Clayton-Smith,
S. Ismail,
...
S. Price,
M. Preece,
P. Stanier,
G. Moore
|
6 |
2002 |
6
🐜
|
|
🐜
|
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
20 auth.
Hongda Li,
S. Bielas,
M. Zaki,
S. Ismail,
D. Farfara,
Kyongmi Um,
R. O. Rosti,
Eric Scott,
Shu Tu,
N. Chi,
...
S. Gabriel,
E. Erson-Omay,
A. Ercan-Sencicek,
Katsuhito Yasuno,
A. Çağlayan,
H. Kaymakçalan,
B. Ekici,
K. Bilguvar,
M. Gunel,
J. Gleeson
|
6 |
2016 |
6
🐜
|
|
🐜
|
Expanding the phenome and variome of skeletal dysplasia
56 auth.
S. Maddirevula,
Saud Alsahli,
Lamees Alhabeeb,
N. Patel,
F. Alzahrani,
H. Shamseldin,
S. Anazi,
Nour Ewida,
H. Alsaif,
Jawahir Y. Mohamed,
A. Alazami,
N. Ibrahim,
F. Abdulwahab,
M. Hashem,
M. Abouelhoda,
...
D. Monies,
N. Tassan,
M. Alshammari,
Afaf Alsagheir,
M. Z. Seidahmed,
Samira Sogati,
M. Aglan,
M. Hamad,
M. Salih,
A. Hamed,
Nadia Alhashmi,
Amira Nabil,
Fatima Alfadli,
G. Abdel-Salam,
Hisham S. Alkuraya,
W. Peitee,
W. Keng,
Abdullah Qasem,
Aziza Mushiba,
M. Zaki,
Mahmoud R. Fassad,
M. Alfadhel,
S. Alexander,
Y. Sabr,
S. Temtamy,
Alka V. Ekbote,
S. Ismail,
G. Hosny,
G. Otaify,
K. Amr,
S. A. Tala,
Arif O. Khan,
T. Rizk,
A. Alaqeel,
A. Alsiddiky,
Ankur Singh,
S. Kapoor,
Amal M Alhashem,
E. Faqeih,
R. Shaheen,
F. Alkuraya
|
5 |
2018 |
5
🐜
|
|
🐜
|
Phenotypic and cytogenetic spectrum of 9p trisomy.
8 auth.
S. Temtamy,
A. Kamel,
S. Ismail,
Nivine A. Helmy,
M. Aglan,
M. Gammal,
...
M. E. Ruby,
A. Mohamed
|
5 |
2007 |
5
🐜
|
|
🐜
|
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
10 auth.
M. Zaki,
L. Selim,
H. El-Bassyouni,
M. Issa,
I. Mahmoud,
S. Ismail,
...
Marian Y. Girgis,
A. Sadek,
J. Gleeson,
M. S. Abdel Hamid
|
5 |
2016 |
5
🐜
|
|
🐜
|
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
45 auth.
Nuria C. Bramswig,
A. Bertoli-Avella,
B. Albrecht,
A. A. Al Aqeel,
Amal M Alhashem,
N. Al-Sannaa,
Maissa Bah,
Katharina Bröhl,
C. Depienne,
N. Dorison,
D. Doummar,
Nadja Ehmke,
H. Elbendary,
S. Gorokhova,
D. Heron,
...
D. Horn,
Kiely N. James,
B. Keren,
A. Kuechler,
S. Ismail,
M. Issa,
I. Marey,
M. Mayer,
Jennifer McEvoy-Venneri,
A. Mégarbané,
C. Mignot,
Sarar Mohamed,
C. Nava,
N. Philip,
C. Ravix,
A. Rolfs,
A. Sadek,
Lara Segebrecht,
Valentina Stanley,
C. Trautman,
S. Valence,
L. Villard,
T. Wieland,
H. Engels,
T. Strom,
M. Zaki,
J. Gleeson,
H. Lüdecke,
P. Bauer,
D. Wieczorek
|
5 |
2018 |
5
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|
