|
🦁
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
15 auth.
E. Percin,
L. Ploder,
Jessica J. Yu,
Kemal Arici,
D. J. Horsford,
Adam Rutherford,
B. Bapat,
D. Cox,
A. Duncan,
V. Kalnins,
...
A. Kocak-Altintas,
J. Sowden,
E. Traboulsi,
M. Sarfarazi,
R. Mcinnes
|
8 |
2000 |
8
🦁
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|
🐜
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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
11 auth.
H. van Bokhoven,
J. Celli,
H. Kayserili,
E. van Beusekom,
S. Balcı,
W. Brussel,
...
F. Skovby,
B. Kerr,
E. Percin,
N. Akarsu,
H. Brunner
|
8 |
2000 |
8
🐜
|
|
🐜
|
Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses.
14 auth.
M. Phillips,
K. Wallace,
Sarah J. Dickerson,
Michael Miller,
Amelia D. Verhoeven,
Jessica M. Martin,
L. Wright,
W. Shen,
E. Capowski,
E. Percin,
...
Enio T. Perez,
X. Zhong,
M. V. Canto‐Soler,
D. Gamm
|
7 |
2012 |
7
🐜
|
|
🐜
|
Modeling Human Retinal Development with Patient‐Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2
16 auth.
M. Phillips,
Enio T. Perez,
Jessica M. Martin,
Samantha T. Reshel,
K. Wallace,
E. Capowski,
Ruchira Singh,
L. Wright,
E. Clark,
Patrick M. Barney,
...
R. Stewart,
Sarah J. Dickerson,
Michael Miller,
E. Percin,
J. Thomson,
D. Gamm
|
6 |
2014 |
6
🐜
|
|
🐜
|
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
62 auth.
J. Reynolds,
L. Bicknell,
P. Carroll,
M. Higgs,
R. Shaheen,
J. Murray,
D. Papadopoulos,
A. Leitch,
O. Murina,
Zygimante Tarnauskaite,
Sarah R. Wessel,
Anastasia Zlatanou,
Audrey Vernet,
A. von Kriegsheim,
R. Mottram,
...
C. Logan,
H. Bye,
Yun Li,
Alexander Brean,
S. Maddirevula,
R. Challis,
Kassiani Skouloudaki,
Agaadir Almoisheer,
H. Alsaif,
A. Amar,
N. Prescott,
M. Bober,
Angela L. Duker,
E. Faqeih,
M. Z. Seidahmed,
Saeed Al Tala,
A. Alswaid,
Saleem Ahmed,
J. Al-Aama,
J. Altmüller,
M. A. Al Balwi,
A. Brady,
L. Chessa,
H. Cox,
R. Fischetto,
R. Heller,
Bertram D Henderson,
E. Hobson,
P. Nürnberg,
E. Percin,
A. Peron,
L. Spaccini,
A. Quigley,
S. Thakur,
C. Wise,
Grace Yoon,
M. Alnemer,
P. Tomančák,
G. Yigit,
A. Taylor,
Martin A. M. Reijns,
M. Simpson,
D. Cortez,
F. Alkuraya,
C. Mathew,
A. Jackson,
G. Stewart
|
6 |
2017 |
6
🐜
|
|
🐜
|
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
28 auth.
N. Bögershausen,
I‐Chun Tsai,
E. Pohl,
P. Kiper,
Filippo Beleggia,
E. Percin,
Katharina Keupp,
Angela Matchan,
Esther Milz,
Y. Alanay,
H. Kayserili,
Yicheng Liu,
S. Banka,
A. Kranz,
M. Zenker,
...
D. Wieczorek,
N. Elcioglu,
P. Prontera,
S. Lyonnet,
T. Meitinger,
A. F. Stewart,
D. Donnai,
T. Strom,
K. Boduroğlu,
G. Yigit,
Yun Li,
N. Katsanis,
B. Wollnik
|
6 |
2015 |
6
🐜
|
|
🐜
|
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
19 auth.
Sangamitra Boppudi,
N. Bögershausen,
Hanne B Hove,
E. Percin,
D. Aslan,
R. Dvorsky,
G. Kayhan,
Yun Li,
C. Cursiefen,
I. Tantcheva‐poór,
...
P. B. Toft,
Oliver Bartsch,
Christina Lissewski,
I. Wieland,
S. Jakubiczka,
Bernd Wollnik,
M. Ahmadian,
L. M. Heindl,
M. Zenker
|
5 |
2016 |
5
🐜
|
|
🐢
|
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss.
A. Karaer,
K. Karaer,
G. Ozaksit,
S. Ceylaner,
E. Percin
|
5 |
2008 |
5
🐢
|
|
🐜
|
HACE1 deficiency leads to structural and functional neurodevelopmental defects
23 auth.
V. Nagy,
R. Hollstein,
Tsung-Pin Pai,
Michel K. Herde,
Pisanu Buphamalai,
Paul Moeseneder,
E. Lenartowicz,
A. Kavirayani,
G. Korenke,
I. Kozieradzki,
...
R. Nitsch,
A. Cicvaric,
Francisco J. Monje Quiroga,
M. Deardorff,
E. Bedoukian,
Yun Li,
G. Yigit,
Jörg Menche,
E. Percin,
B. Wollnik,
C. Henneberger,
F. Kaiser,
J. Penninger
|
4 |
2019 |
4
🐜
|
|
🐜
|
Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia
7 auth.
M. Albayrak,
Uljan Konyssova,
Z. Kaya,
T. Gursel,
S. Guntekin,
E. Percin,
...
U. Koçak
|
4 |
2011 |
4
🐜
|
