|
🐜
|
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
35 auth.
Paulina Navon Elkan,
S. Pierce,
R. Segel,
T. Walsh,
J. Barash,
S. Padeh,
A. Zlotogorski,
Y. Berkun,
Joseph J Press,
M. Mukamel,
I. Voth,
P. Hashkes,
L. Harel,
V. Hoffer,
E. Ling,
...
F. Yalçınkaya,
O. Kasapcopur,
Ming K. Lee,
R. Klevit,
P. Renbaum,
A. Weinberg-Shukron,
E. Şener,
B. Schormair,
S. Zeligson,
D. Marek‐Yagel,
T. Strom,
M. Shohat,
A. Singer,
A. Rubinow,
E. Pras,
J. Winkelmann,
M. Tekin,
Y. Anikster,
M. King,
E. Levy-Lahad
|
9 |
2014 |
9
🐜
|
|
🐜
|
Natural history of alkaptonuria.
11 auth.
C. Phornphutkul,
W. Introne,
Monique B. Perry,
I. Bernardini,
M. Murphey,
Diana L. Fitzpatrick,
...
P. D. Anderson,
M. Huizing,
Y. Anikster,
L. Gerber,
W. Gahl
|
9 |
2002 |
9
🐜
|
|
🐜
|
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
30 auth.
D. Bockenhauer,
S. Feather,
H. Stanescu,
S. Bandulik,
A. Zdebik,
M. Reichold,
J. Tobin,
E. Lieberer,
C. Sterner,
G. Landouré,
R. Arora,
T. Sirimanna,
Dorothy A. Thompson,
J. Cross,
W. V. van’t Hoff,
...
Omar Al Masri,
K. Tullus,
S. Yeung,
Y. Anikster,
E. Klootwijk,
M. Hubank,
M. Dillon,
D. Heitzmann,
M. Arcos-Burgos,
M. Knepper,
A. Dobbie,
W. Gahl,
R. Warth,
E. Sheridan,
R. Kleta
|
9 |
2009 |
9
🐜
|
|
🐜
|
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
35 auth.
Xiaoling Zhu,
S. Petrovski,
S. Petrovski,
Pingxing Xie,
Pingxing Xie,
E. Ruzzo,
Yi-Fan Lu,
K. M. McSweeney,
B. Ben-Zeev,
B. Ben-Zeev,
A. Nissenkorn,
A. Nissenkorn,
Y. Anikster,
Y. Anikster,
D. Oz-Levi,
...
R. Dhindsa,
Y. Hitomi,
Y. Hitomi,
K. Schoch,
Rebecca C. Spillmann,
G. Heimer,
D. Marek‐Yagel,
M. Tzadok,
M. Tzadok,
Yujun Han,
G. Worley,
J. Goldstein,
Yong-hui Jiang,
D. Lancet,
E. Pras,
V. Shashi,
D. Mchale,
A. Need,
A. Need,
D. Goldstein
|
8 |
2015 |
8
🐜
|
|
🐜
|
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
35 auth.
Xiaoling Zhu,
S. Petrovski,
S. Petrovski,
Pingxing Xie,
Pingxing Xie,
E. Ruzzo,
Yi-Fan Lu,
K. M. McSweeney,
B. Ben-Zeev,
B. Ben-Zeev,
A. Nissenkorn,
A. Nissenkorn,
Y. Anikster,
Y. Anikster,
D. Oz-Levi,
...
R. Dhindsa,
Y. Hitomi,
Y. Hitomi,
K. Schoch,
Rebecca C. Spillmann,
G. Heimer,
D. Marek‐Yagel,
M. Tzadok,
M. Tzadok,
Yujun Han,
G. Worley,
J. Goldstein,
Yong-hui Jiang,
D. Lancet,
E. Pras,
V. Shashi,
D. Mchale,
A. Need,
A. Need,
D. Goldstein
|
8 |
2015 |
8
🐜
|
|
🐜
|
NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules
24 auth.
M. Gunay-Aygun,
T. Falik-Zaccai,
T. Vilboux,
Yifat Zivony-Elboum,
F. Gumruk,
M. Çetin,
M. Khayat,
C. Boerkoel,
N. Kfir,
Y. Huang,
...
D. Maynard,
H. Dorward,
Katherine Berger,
R. Kleta,
Y. Anikster,
M. Arat,
A. Freiberg,
B. Kehrel,
K. Jurk,
P. Cruz,
J. Mullikin,
J. White,
M. Huizing,
W. Gahl
|
8 |
2011 |
8
🐜
|
|
🦁
|
Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico
11 auth.
Y. Anikster,
M. Huizing,
J. White,
Y. Shevchenko,
Diana L. Fitzpatrick,
J. Touchman,
...
J. Compton,
S. Bale,
R. Swank,
W. Gahl,
J. Toro
|
7 |
2001 |
7
🦁
|
|
🐜
|
Integrin α3 mutations with kidney, lung, and skin disease.
17 auth.
C. Has,
G. Spartà,
D. Kiritsi,
L. Weibel,
A. Moeller,
V. Vega-Warner,
A. Waters,
Yinghong He,
Y. Anikster,
P. Esser,
...
B. Straub,
I. Hausser,
D. Bockenhauer,
B. Dekel,
F. Hildebrandt,
L. Bruckner-Tuderman,
G. Laube
|
7 |
2012 |
7
🐜
|
|
🐜
|
The Genetic Landscape and Epidemiology of Phenylketonuria.
48 auth.
Alicia Hillert,
Y. Anikster,
A. Bélanger-Quintana,
A. Burlina,
B. Burton,
C. Carducci,
A. Chiesa,
J. Christodoulou,
M. Đorđević,
L. Desviat,
A. Eliyahu,
Roeland A. F. Evers,
L. Fajkusová,
F. Feillet,
Pedro E Bonfim-Freitas,
...
M. Giżewska,
P. Gundorova,
D. Karall,
K. Kneller,
S. Kutsev,
V. Leuzzi,
H. Levy,
U. Lichter-Konecki,
A. Muntau,
F. Namour,
M. Ołtarzewski,
A. Paras,
B. Pérez,
E. Polák,
A. Polyakov,
F. Porta,
M. Rohrbach,
S. Scholl-Bürgi,
N. Specola,
M. Stojiljkovic,
N. Shen,
Luiz C Santana-da Silva,
A. Skouma,
F. V. van Spronsen,
Vera Stoppioni,
B. Thöny,
F. Trefz,
J. Vockley,
Youngguo Yu,
J. Zschocke,
G. Hoffmann,
S. Garbade,
N. Blau
|
7 |
2020 |
7
🐜
|
|
🦁
|
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
Y. Anikster,
R. Kleta,
A. Shaag,
W. Gahl,
O. Elpeleg
|
7 |
2001 |
7
🦁
|
|
🐜
|
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
19 auth.
D. Oz-Levi,
B. Ben-Zeev,
E. Ruzzo,
Y. Hitomi,
A. Gelman,
Kimberly Pelak,
Y. Anikster,
H. Reznik‐Wolf,
Ifat Bar-joseph,
T. Olender,
...
A. Alkelai,
M. Weiss,
E. Ben‐Asher,
D. Ge,
K. Shianna,
Z. Elazar,
D. Goldstein,
E. Pras,
D. Lancet
|
7 |
2012 |
7
🐜
|
