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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
66 auth.
E. Karaca,
T. Harel,
D. Pehlivan,
S. Jhangiani,
T. Gambin,
Z. Akdemir,
C. Gonzaga‐Jauregui,
Serkan Erdin,
Serkan Erdin,
Y. Bayram,
I. Campbell,
J. Hunter,
M. M. Atik,
H. Esch,
Bo Yuan,
...
W. Wiszniewski,
S. Işıkay,
G. Yeşil,
O. O. Yuregir,
S. Bozdoğan,
H. Aslan,
H. Aydin,
T. Tos,
A. Aksoy,
D. Vivo,
Preti Jain,
B. Geçkinli,
O. Sezer,
D. Gul,
B. Durmaz,
O. Cogulu,
F. Ozkinay,
V. Topçu,
S. Candan,
A. Çebi,
M. Ikbal,
E. Gulec,
A. Gezdirici,
Erkan Koparir,
F. Ekici,
S. Coşkun,
S. Çiçek,
K. Karaer,
A. Koparir,
M. B. Duz,
Emre Kırat,
Elif Fenercioğlu,
H. Ulucan,
M. Seven,
T. Guran,
N. Elcioglu,
M. Yıldırım,
D. Aktaş,
M. Alikaşifoğlu,
M. Ture,
T. Yakut,
J. Overton,
A. Yuksel,
M. Ozen,
D. Muzny,
D. Adams,
E. Boerwinkle,
E. Boerwinkle,
W. Chung,
R. Gibbs,
J. Lupski
|
8 |
2015 |
8
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
57 auth.
D. Wieczorek,
N. Bögershausen,
Filippo Beleggia,
S. Steiner-Haldenstätt,
E. Pohl,
Yun Li,
Esther Milz,
Marcel Martin,
H. Thiele,
J. Altmüller,
Y. Alanay,
Y. Alanay,
H. Kayserili,
L. Klein-Hitpass,
S. Böhringer,
...
Andreas Wollstein,
B. Albrecht,
K. Boduroğlu,
A. Caliebe,
K. Chrzanowska,
O. Cogulu,
F. Cristofoli,
J. Czeschik,
K. Devriendt,
M. Dotti,
N. Elcioglu,
B. Gener,
T. Goecke,
M. Krajewska-Walasek,
E. Guillén-Navarro,
J. Hayek,
G. Houge,
E. Kılıç,
P. Simsek-Kiper,
V. López‐González,
A. Kuechler,
S. Lyonnet,
F. Mari,
A. Marozza,
M. M. Dramard,
B. Mikat,
G. Morin,
F. Morice-Picard,
F. Ozkinay,
A. Rauch,
A. Renieri,
S. Tinschert,
G. Utine,
C. Vilain,
R. Vivarelli,
C. Zweier,
P. Nürnberg,
S. Rahmann,
J. Vermeesch,
H. Lüdecke,
M. Zeschnigk,
B. Wollnik
|
7 |
2013 |
7
🐜
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🐜
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Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey.
10 auth.
Z. Kurugöl,
Seda Geylani,
Yeşer Karaca,
Feyza Umay,
S. Erensoy,
F. Vardar,
...
M. Bak,
I. Yaprak,
F. Ozkinay,
C. Ozkinay
|
6 |
2003 |
6
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🐜
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SMOC1 is essential for ocular and limb development in humans and mice.
28 auth.
Ippei Okada,
H. Hamanoue,
Koji Terada,
T. Tohma,
A. Mégarbané,
E. Chouery,
J. Abou-Ghoch,
N. Jalkh,
O. Cogulu,
F. Ozkinay,
K. Horie,
J. Takeda,
T. Furuichi,
S. Ikegawa,
K. Nishiyama,
...
S. Miyatake,
A. Nishimura,
T. Mizuguchi,
N. Niikawa,
F. Hirahara,
T. Kaname,
K. Yoshiura,
Y. Tsurusaki,
H. Doi,
N. Miyake,
T. Furukawa,
N. Matsumoto,
H. Saitsu
|
6 |
2011 |
6
🐜
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🐢
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Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome.
D. Çoğulu,
E. Sabah,
N. Kutukculer,
F. Ozkinay
|
6 |
2006 |
6
🐢
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|
🐜
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Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
37 auth.
J. Rainger,
E. Beusekom,
Jacqueline K. Ramsay,
Lisa McKie,
L. Al-Gazali,
R. Pallotta,
A. Saponari,
P. Branney,
M. Fisher,
Harris Morrison,
L. Bicknell,
P. Gautier,
P. Perry,
K. Sokhi,
K. Sokhi,
...
D. Sexton,
T. Bardakjian,
A. Schneider,
N. Elcioglu,
F. Ozkinay,
R. Koenig,
A. Mégarbané,
C. N. Semerci,
A. Khan,
S. Zafar,
R. Hennekam,
S. Sousa,
L. Ramos,
L. Garavelli,
A. S. Furga,
A. Wischmeijer,
I. Jackson,
G. Gillessen‐Kaesbach,
H. Brunner,
D. Wieczorek,
H. Bokhoven,
D. FitzPatrick
|
6 |
2011 |
6
🐜
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Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
10 auth.
M. Kilinç,
V. Ninis,
E. Dağlı,
M. Demirkol,
F. Ozkinay,
Zeliha Arikan,
...
O. Cogulu,
G. Hüner,
F. Karakoç,
A. Tolun
|
6 |
2002 |
6
🐜
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|
🐜
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
24 auth.
I. Parenti,
M. Teresa-Rodrigo,
J. Pozojevic,
Sara Ruiz Gil,
I. Bader,
D. Braunholz,
Nuria C. Bramswig,
C. Gervasini,
L. Larizza,
L. Pfeiffer,
...
F. Ozkinay,
F. Ramos,
Benedikt Reiz,
O. Rittinger,
T. Strom,
E. Watrin,
K. Wendt,
D. Wieczorek,
B. Wollnik,
C. Baquero‐Montoya,
J. Pié,
M. Deardorff,
G. Gillessen‐Kaesbach,
F. Kaiser
|
5 |
2017 |
5
🐜
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|
🐢
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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
7 auth.
T. Atik,
H. Onay,
A. Aykut,
G. Bademci,
T. Kirazlı,
M. Tekin,
...
F. Ozkinay
|
5 |
2015 |
5
🐢
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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
13 auth.
J. Schreml,
B. Durmaz,
O. Cogulu,
Katharina Keupp,
Filippo Beleggia,
E. Pohl,
Esther Milz,
M. Çoker,
S. K. Uçar,
G. Nürnberg,
...
P. Nürnberg,
J. Kuhn,
F. Ozkinay
|
5 |
2013 |
5
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