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IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
16 auth.
P. Beales,
E. Bland,
J. Tobin,
C. Bacchelli,
B. Tuysuz,
Josephine Hill,
S. Rix,
C. Pearson,
M. Kai,
J. Hartley,
...
Colin A. Johnson,
M. Irving,
Nursel H Elcioglu,
M. Winey,
M. Tada,
P. Scambler
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8 |
2007 |
8
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|
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
48 auth.
Tadahiro Mitani,
S. Işıkay,
A. Gezdirici,
E. Gulec,
J. Punetha,
Jawid M Fatih,
Isabella Herman,
Gulsen Akay,
D. Calame,
Akif Ayaz,
T. Tos,
G. Yeşil,
H. Aydin,
B. Geçkinli,
Nursel H Elcioglu,
...
S. Candan,
O. Sezer,
H. Erdem,
D. Gul,
E. Demiral,
Muhsin Elmas,
Osman Yeşilbaş,
B. Kılıç,
Serdal Gungor,
A. Ceylan,
S. Bozdogan,
O. Ozalp,
S. Çiçek,
H. Aslan,
S. Yalçıntepe,
V. Topçu,
Y. Bayram,
Christopher M. Grochowski,
Angad Jolly,
Moez Dawood,
Ruizhi Duan,
S. Jhangiani,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
Dana Marafi,
Z. Akdemir,
E. Karaca,
C. Carvalho,
R. Gibbs,
J. Posey,
J. Lupski,
D. Pehlivan
|
5 |
2021 |
5
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|
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Human piebaldism: six novel mutations of the proto‐oncogene KIT
8 auth.
P. Syrris,
Kirsten Heathcote,
R. Carrozzo,
K. Devriendt,
Nursel H Elcioglu,
C. Garrett,
...
M. McEntagart,
N. Carter
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4 |
2002 |
4
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|
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Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
58 auth.
Paul A. Mulder,
I. V. Balkom,
A. Landlust,
M. Priolo,
Leonie A. Menke,
I. H. Acero,
F. Alkuraya,
Pedro Arias,
Laura Bernardini,
E. Bijlsma,
Trevor Cole,
C. Coubes,
I. Dapía,
Sally J Davies,
N. D. Donato,
...
Nursel H Elcioglu,
Jill A. Fahrner,
A. Foster,
N. G. González,
I. Huber,
Maria Iascone,
Ann Sophie Kaiser,
Arveen Kamath,
K. Kooblall,
Pablo Lapunzina,
Jan Liebelt,
S. Lynch,
Saskia M. Maas,
C. Mammi',
I. B. Mathijssen,
Shane McKee,
G. Mirzaa,
T. Montgomery,
Dorothée Neubauer,
T. E. Neumann,
L. Pintomalli,
M. A. Pisanti,
A. Plomp,
Sue Price,
Claire G. Salter,
F. Santos-Simarro,
Pierre Sarda,
D. Schanze,
Mabel Segovia,
C. Shaw-Smith,
S. Smithson,
Mohnish Suri,
K. Tatton-Brown,
J. Tenorio,
R. V. Thakker,
Rita Valdez,
A. Haeringen,
J. M. Hagen,
M. Zenker,
M. Zollino,
W. Dunn,
S. Piening,
R. Hennekam
|
4 |
2020 |
4
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|
🐜
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Genome sequencing in families with congenital limb malformations
32 auth.
J. Elsner,
M. A. Mensah,
M. Holtgrewe,
J. Hertzberg,
S. Bigoni,
A. Busche,
Marie Coutelier,
D. D. de Silva,
Nursel H Elcioglu,
I. Filges,
E. Gerkes,
K. Girisha,
L. Graul-Neumann,
A. Jamsheer,
P. Krawitz,
...
I. Kurth,
S. Markus,
A. Mégarbané,
A. Reis,
M. Reuter,
D. Svoboda,
Christopher Teller,
B. Tuysuz,
S. Türkmen,
Meredith Wilson,
R. Woitschach,
I. Vater,
A. Caliebe,
W. Hülsemann,
D. Horn,
S. Mundlos,
M. Spielmann
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4 |
2021 |
4
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|
🐜
|
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
7 auth.
S. Steinberg,
Nursel H Elcioglu,
C. Slade,
A. Sankaralingam,
N. Dennis,
S. Mohammed,
...
A. Fensom
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4 |
1999 |
4
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|
|
🐜
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
18 auth.
Z. Dardas,
Angad Jolly,
Christopher M. Grochowski,
S. Jhangiani,
He Li,
D. Muzny,
Jawid M Fatih,
G. Yeşil,
Nursel H Elcioglu,
A. Gezdirici,
...
Dana Marafi,
D. Pehlivan,
D. Calame,
C. Carvalho,
J. Posey,
T. Gambin,
Z. Coban-Akdemir,
J. Lupski
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2 |
2023 |
2
🐜
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|
🐜
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Developmental genomics of congenital limb malformations: further indication of allelic series in association with gene dosage effects that contribute to the variability of phenotypes
27 auth.
Ruizhi Duan,
H. Hijazi,
E. Gulec,
H. K. Eker,
Silvia R. Costa,
Y. Sahin,
Z. Ocak,
S. Işıkay,
O. Ozalp,
S. Bozdogan,
H. Aslan,
Nursel H Elcioglu,
D. Bertola,
A. Gezdirici,
Jawid M Fatih,
...
Christopher M. Grochowski,
Gulsen Akay,
E. Karaca,
Shen Gu,
Z. Coban-Akdemir,
J. Posey,
Y. Bayram,
V. Sutton,
C. Carvalho,
D. Pehlivan,
R. Gibbs,
J. Lupski
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1 |
2022 |
1
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|
