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🐜
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
75 auth.
G. Heimer,
Juha M. Kerätär,
L. Riley,
S. Balasubramaniam,
E. Eyal,
Laura P. Pietikäinen,
J. Hiltunen,
D. Marek‐Yagel,
J. Hamada,
A. Gregory,
C. Rogers,
P. Hogarth,
M. Nance,
N. Shalva,
A. Veber,
...
M. Tzadok,
A. Nissenkorn,
D. Tonduti,
F. Renaldo,
I. Kraoua,
C. Panteghini,
L. Valletta,
B. Garavaglia,
M. Cowley,
V. Gayevskiy,
T. Roscioli,
J. Silberstein,
C. Hoffmann,
A. Raas‐Rothschild,
V. Tiranti,
Y. Anikster,
J. Christodoulou,
A. Kastaniotis,
B. Ben-Zeev,
S. Hayflick,
M. Bamshad,
S. Leal,
D. Nickerson,
Peter Anderson,
Marcus Annable,
E. Blue,
K. Buckingham,
J. Chin,
Jessica X. Chong,
Rodolfo Cornejo,
Colleen Davis,
Christopher Frazar,
Zongxiao He,
G. Jarvik,
Guillaume Jimenez,
E. Johanson,
Tom Kolar,
Stephanie A. Krauter,
Daniel Luksic,
Colby T. Marvin,
Sean R Mcgee,
Daniel McGoldrick,
Karynne E. Patterson,
Marcos Perez,
Sam W. Phillips,
J. Pijoan,
P. Robertson,
R. Santos-Cortez,
Aditi G. Shankar,
Krystal Slattery,
Kathryn M. Shively,
D. Siegel,
Joshua D. Smith,
M. Tackett,
Gao T. Wang,
Marc Wegener,
Jeffrey M. Weiss,
Riana I. Wernick,
Marsha M. Wheeler,
Q. Yi
|
6 |
2016 |
6
🐜
|
|
🐜
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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
65 auth.
M. Shahzad,
Saira Yousaf,
Y. M. Waryah,
Hadia Gul,
Tasleem Kausar,
N. Tariq,
Umair Mahmood,
Muhammad Ali,
Muzammil Ahmad Khan,
A. M. Waryah,
R. S. Shaikh,
S. Riazuddin,
Zubair M. Ahmed,
M. Bamshad,
J. Shendure,
...
D. Nickerson,
G. Abecasis,
Peter Anderson,
Elizabeth Marchani Blue,
Marcus Annable,
B. Browning,
K. Buckingham,
Christina Chen,
J. Chin,
Jessica X. Chong,
G. Cooper,
Colleen Davis,
Christopher Frazar,
Tanya M. Harrell,
Zongxiao He,
Preti Jain,
G. Jarvik,
Guillaume Jimenez,
E. Johanson,
G. Jun,
Martin Kircher,
Tom Kolar,
Stephanie A. Krauter,
Niklas Krumm,
S. Leal,
Daniel Luksic,
Colby T. Marvin,
Sean R Mcgee,
Karynne E. Patterson,
Marcos Perez,
Sam W. Phillips,
J. Pijoan,
C. Poel,
S. Ragan,
F. Reinier,
P. Robertson,
R. Santos-Cortez,
Aditi G. Shankar,
Krystal Slattery,
Cynthia Shephard,
Kathryn M. Shively,
D. Siegel,
Joshua D. Smith,
H. Tabor,
M. Tackett,
Marc Wegener,
Gao T. Wang,
Marsha M. Wheeler,
Amber Wright,
Q. Yi
|
4 |
2017 |
4
🐜
|
|
🦁
|
A qualitative study of Latinx parents' experiences of clinical exome sequencing.
9 auth.
Daniel Luksic,
Radha Sukhu,
Carrie Koval,
M. Cho,
Aileen Espinal,
K. Rufino,
...
Tania Vasquez Loarte,
W. Chung,
J. Wynn
|
4 |
2020 |
4
🦁
|
|
🦁
|
Parental perception of pediatric clinical exome sequencing in a Latino population
Daniel Luksic,
Radha Sukhu
|
0 |
2019 |
0
🦁
|
