|
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
46 auth.
D. Pehlivan,
Y. Bayram,
Nilay Gunes,
Zeynep Coban Akdemir,
A. Shukla,
T. Bierhals,
B. Tabakcı,
Y. Sahin,
A. Gezdirici,
Jawid M Fatih,
E. Gulec,
G. Yeşil,
J. Punetha,
Z. Ocak,
Christopher M. Grochowski,
...
E. Karaca,
H. Albayrak,
P. Radhakrishnan,
H. Erdem,
I. Sahin,
T. Yildirim,
I. Bayhan,
A. Bursalı,
Muhsin Elmas,
Z. Yuksel,
O. Ozdemır,
F. Sılan,
O. Yildiz,
Osman Yeşilbaş,
S. Işıkay,
B. Balta,
Shen Gu,
S. Jhangiani,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
E. Boerwinkle,
R. Gibbs,
K. Tsiakas,
M. Hempel,
K. Girisha,
D. Gul,
J. Posey,
N. Elcioglu,
B. Tuysuz,
J. Lupski
|
6 |
2019 |
6
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|
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
46 auth.
Yuh-Charn Lin,
M. Niceta,
V. Muto,
B. Vona,
A. Pagnamenta,
R. Maroofian,
C. Beetz,
H. V. van Duyvenvoorde,
M. Dentici,
Peter Lauffer,
Sadeq Vallian,
A. Ciolfi,
S. Pizzi,
P. Bauer,
Nana-Maria Grüning,
...
E. Bellacchio,
A. Del Fattore,
S. Petrini,
R. Shaheen,
D. Tiosano,
Rana Halloun,
B. Pode-Shakked,
H. Albayrak,
E. Isık,
J. Wit,
M. Dittrich,
B. L. Freire,
D. Bertola,
A. Jorge,
O. Barel,
A. Sabir,
Amal Al Tenaiji,
S. M. Taji,
N. Al-Sannaa,
H. Al-Abdulwahed,
M. Digilio,
M. Irving,
Y. Anikster,
G. Bhavani,
K. Girisha,
T. Haaf,
Jenny C. Taylor,
B. Dallapiccola,
F. Alkuraya,
Ruey-Bing Yang,
M. Tartaglia
|
5 |
2020 |
5
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|
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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
11 auth.
Long Guo,
N. Elcioglu,
Shuji Mizumoto,
Z. Wang,
Bilge Noyan,
H. Albayrak,
...
S. Yamada,
N. Matsumoto,
N. Miyake,
G. Nishimura,
S. Ikegawa
|
4 |
2017 |
4
🐜
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|
🐜
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
200 auth.
Alicia B. Byrne,
P. Arts,
Thuong T. Ha,
K. Kassahn,
L. Pais,
A. O’Donnell-Luria,
F. Aguet,
H. Arachchi,
C. Austin-Tse,
Larry Babb,
Samantha M. Baxter,
H. Brand,
Jaime Chang,
K. Chao,
Ryan L. Collins,
...
Beryl B. Cummings,
Kayla Delano,
Stephanie P. DiTroia,
E. England,
Emily Evangelista,
S. Everett,
L. Francioli,
Jack M. Fu,
V. Ganesh,
K. Garimella,
L. Gauthier,
J. Goodrich,
Sanna Gudmundsson,
S. Hall,
Yongqing Huang,
Steve Jahl,
Kristen M. Laricchia,
K. Larkin,
M. Lek,
G. Lemire,
Rachel B. Lipson,
A. Lovgren,
D. MacArthur,
B. Mangilog,
Stacy-Ann Mano,
Jamie L. Marshall,
T. Mullen,
K. Nguyen,
Emily O’Heir,
M. O’Leary,
I. Osei-Owusu,
Jorge Perez de Acha Chavez,
E. Pierce-Hoffman,
H. Rehm,
J. Serrano,
M. Singer-Berk,
Hana R. Snow,
M. Solomonson,
Rachel G Son,
A. Sveden,
M. Talkowski,
G. Tiao,
M. Udler,
Z. Valivullah,
E. Valkanas,
G. VanNoy,
Qingbo S. Wang,
N. Watts,
B. Weisburd,
C. Williamson,
Michael W. Wilson,
Lauren Witzgall,
M. Wojcik,
Isaac Wong,
J. Wood,
Shifa Zhang,
Milena Babic,
M. Frank,
Jinghua Feng,
Paul P. S. Wang,
D. Lawrence,
L. Eshraghi,
Luis Arriola,
J. Toubia,
Hung Nguyen,
Disna Abeysuriya,
L. Adès,
David J. Amor,
S. Arbuckle,
Madhura Bakshi,
Bligh D. Berry,
Tiffany F. Boughtwood,
A. Bournazos,
A. Bray,
Fiona Chan,
Y. Chan,
Clara W T Chung,
Jonathan Clark,
Jackie Collett,
A. Colley,
F. Collins,
Sandra T. Cooper,
M. Corbett,
J. Dahlstrom,
P. Dargaville,
J. Davies,
T. Davis,
Jarrad Dearman,
J. Dissanayake,
J. Dobbins,
H. Doyle,
Andrew Dubowsky,
Matt Edwards,
Lisa J Ewans,
M. Fadia,
A. Fennell,
Keri Finlay,
A. French,
K. Friend,
A. Gardner,
J. Gécz,
N. Graf,
E. Haan,
G. Hollingsworth,
A. Horton,
Denise A. Howting,
M. Hunter,
G. Jevon,
B. Kamien,
D. Kennedy,
T. Y. Khong,
M. Krivanek,
Thessa Kroes,
Emma I. Krzesinski,
E. Kwan,
Stephanie Lau,
S. LeBlanc,
J. Liebelt,
S. Lindsey-Temple,
J. Lipsett,
Christine K. C. Loo,
J. Low,
A. Mallawaarachchi,
N. Manton,
Admire Matsika,
Tessa Mattiske,
J. McGaughran,
Lesley Mcgregor,
Namita Mittal,
A. Moghimi,
L. Moore,
H. Albayrak,
J. Ng,
J. Nicholl,
N. Pachter,
John D Papadimitriou,
Renae Parker,
S. Parsons,
C. Patel,
R. Pawlowski,
L. Pérez-Jurado,
J. Pinner,
K. Politis,
C. Poulton,
Theresa Power,
M. Quinn,
S. Rajagopalan,
M. Regan,
Jonathan Rodgers,
S. Rorke,
R. Sachdev,
S. Sallevelt,
S. Sandaradura,
Maryam Shamassi,
Roshan Shamon,
Isabella Sherburn,
J. Slee,
A. Solinas,
E. Sugo,
E. Thompson,
S. Tripathy,
Anand Vasudevan,
M. Vazquez,
K. Verma,
Mthulisi Viki,
M. Wallis,
D. L. Webber,
M. Weber,
K. Whale,
Meredith Wilson,
L. Worgan,
Sui Yu,
G. McGillivray,
J. Pinner,
F. McKenzie,
R. Morrow,
T. Y. Khong,
L. Moore,
J. Liebelt,
A. Schreiber,
Sarah L. King-Smith,
T. Hardy,
Matilda R Jackson,
Christopher Barnett,
H. Scott
|
4 |
2023 |
4
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|
|
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|
Increased Severe Cases and New-Onset Type 1 Diabetes Among Children Presenting With Diabetic Ketoacidosis During First Year of COVID-19 Pandemic in Turkey
59 auth.
E. Kıral,
B. Kırel,
M. Havan,
M. Keskin,
M. Karaoğlan,
A. Yıldırım,
M. Kanğın,
M. Talay,
Tuba Urun,
Umit Altug,
S. Kesici,
Erennur Tufan,
E. Kaçmaz,
Gurkan Bozan,
E. Azapağası,
...
Mutlu Uysal Yazıcı,
Z. Ozturk,
Osman Yeşilbaş,
G. Karaguzel,
Gülay Kaya,
U. Barlas,
M. Duyu,
Merve Boyraz,
E. Şevketoğlu,
N. Akçay,
Suna Hancili,
A. Guven,
O. Dursun,
N. Ulgen Tekerek,
Gokcen Ozcifci,
P. Yazıcı,
E. Turanlı,
T. Kendirli,
F. Kahveci,
A. Yetimakman,
A. Çıtak,
G. Şık,
Ibrahim Bingol,
F. Aygun,
C. Durak,
Resul Yılmaz,
Fuat Buğrul,
Y. Sari,
H. Tekguc,
H. Albayrak,
N. Yener,
H. Ağın,
E. Soydan,
D. Yıldızdaş,
Semine Ozdemir Dilek,
Nilüfer Yalındağ,
Feyza Incekoy-Girgin,
Nuri Alacakır,
Filiz Tutunculer,
Mehmet Ozgur Arslanaoglu,
C. Aydin,
M. Bilgin,
E. Şimşek,
E. Dinleyici
|
3 |
2022 |
3
🐜
|
|
🐜
|
Evaluation of 601 children with multisystem inflammatory syndrome (Turk MISC study).
92 auth.
Dilek Yılmaz,
Yıldız Ekemen Keleş,
M. Emiroğlu,
B. Duramaz,
Cüneyt Uğur,
Bilge Aldemir Kocabaş,
Talyan Celik,
H. Ozdemir,
S. Bayturan,
O. Turel,
E. Erdeniz,
Ozlem Cakici,
Esra Çakmak Taşkın,
İrem Ceren Erbaş,
Mustafa Gençeli,
...
Emine Ergül Sarı,
Canan Caymaz,
M. C. Kızıl,
M. Sutcu,
Asuman Demirbuğa,
G. Alkan,
Zafer Bağcı,
Gülperi Timurtaş Dayar,
E. Ozkan,
Ayşe Tekin Yılmaz,
Mehtap Akça,
Edanur Yeşil,
S. Kara,
H. Akturk,
Belma Yaşar,
Zuhal Umit,
H. Uygun,
Nurettin Erdem,
Ayse Buyukcam,
E. Karadag Oncel,
Sadiye Kubra Tuter Oz,
Hafize Selma Çetin,
A. Anıl,
Resul Yilmaz,
N. Zengin,
S. Uzuner,
H. Albayrak,
Ozgur Borakay,
S. Topal,
G. Arslan,
A. Yazar,
A. Ozer,
T. Kendirli,
Emine Manolya Kara,
D. Demirkol,
F. Battal,
Muhammet Kosker,
Ozge Metin Akcan,
H. S. Kıhtır,
Doruk Gul,
Kazım Zararcı,
Mehmet Alakaya,
Nilgun Kula,
Elif Celik,
E. Petmezci,
Gultac Evren,
Ahu Kara Aksay,
Ç. Konca,
A. Sert,
D. Arslan,
H. Bornaun,
Onur Tekeli,
A. Bal,
İrfan Oğuz Şahin,
S. Demir,
F. Şap,
M. B. Akyol,
I. Tanıdır,
Y. Donmez,
T. Uçar,
Senay Coban,
G. Arga,
Selda Hançerli Torun,
D. Karpuz,
Serkan Fazlı Çelik,
Celal Varan,
F. Elmalı,
Selim Oncel,
N. Belet,
N. Hatipoğlu,
Nazan Dalgic Karabulut,
Mehmet Turgut,
A. Somer,
N. Kuyucu,
E. Dinleyici,
E. Çiftçi,
A. Kara
|
2 |
2023 |
2
🐜
|
|
🐢
|
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
G. Gürbüz,
H. Albayrak
|
2 |
2019 |
2
🐢
|
