|
π
|
Post-translational disruption of dystroglycanβligand interactions in congenital muscular dystrophies
14 auth.
D. Michele,
R. Barresi,
M. Kanagawa,
F. Saito,
R. Cohn,
Jakob S. Satz,
J. Dollar,
I. Nishino,
R. Kelley,
H. Somer,
...
V. Straub,
K. Mathews,
S. Moore,
K. Campbell
|
9 |
2002 |
9
π
|
|
π¦
|
The Smith-Lemli-Opitz syndrome
R. Kelley,
R. Hennekam
|
9 |
2000 |
9
π¦
|
|
π
|
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
8 auth.
D. Wallace,
Xianxian Zheng,
M. Lott,
J. Shoffner,
J. A. Hodge,
R. Kelley,
...
C. Epstein,
L. Hopkins
|
8 |
1988 |
8
π
|
|
π
|
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies
28 auth.
G. Wang,
Megan L. McCain,
Luhan Yang,
Aibin He,
F. Pasqualini,
A. Agarwal,
Hongyan Yuan,
D. Jiang,
Donghui Zhang,
L. Zangi,
Judith Geva,
A. Roberts,
Qing Ma,
Jian Ding,
Jinghai Chen,
...
Da-Zhi Wang,
Kai Li,
Jiwu Wang,
R. Wanders,
W. Kulik,
F. Vaz,
M. Laflamme,
C. Murry,
K. Chien,
R. Kelley,
G. Church,
K. Parker,
W. Pu
|
8 |
2014 |
8
π
|
|
π
|
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies
28 auth.
G. Wang,
Megan L. McCain,
Luhan Yang,
Aibin He,
F. Pasqualini,
A. Agarwal,
Hongyan Yuan,
D. Jiang,
Donghui Zhang,
L. Zangi,
Judith Geva,
A. Roberts,
Qing Ma,
Jian Ding,
Jinghai Chen,
...
Da-Zhi Wang,
Kai Li,
Jiwu Wang,
R. Wanders,
W. Kulik,
F. Vaz,
M. Laflamme,
C. Murry,
K. Chien,
R. Kelley,
George M. Church,
K. Parker,
W. Pu
|
8 |
2014 |
8
π
|
|
π’
|
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
D. Morton,
K. Strauss,
Donna L. Robinson,
E. Puffenberger,
R. Kelley
|
8 |
2002 |
8
π’
|
|
π¦
|
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
8 auth.
R. Kelley,
J. Cheatham,
B. Clark,
M. Nigro,
B. Powell,
G. Sherwood,
...
J. Sladky,
W. P. Swisher
|
8 |
1991 |
8
π¦
|
|
π
|
Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
8 auth.
Jacqueline R. Weissman,
R. Kelley,
M. Bauman,
B. Cohen,
Katherine F. Murray,
R. L. Mitchell,
...
Rebecca L. Kern,
M. Natowicz
|
7 |
2008 |
7
π
|
|
π
|
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
7 auth.
A. Moser,
Inderjit Singh,
F. R. Brown,
G. Solish,
R. Kelley,
P. Benke,
...
H. Moser
|
7 |
1984 |
7
π
|
|
π
|
Mutations in the gene encoding 3Ξ²-hydroxysteroid-Ξ 8,Ξ7-isomerase cause X-linked dominant Conradi-HΓΌnermann syndrome
12 auth.
N. Braverman,
P. Lin,
F. F. Moebius,
C. Obie,
A. Moser,
H. Glossmann,
...
W. Wilcox,
D. Rimoin,
Moyra J. Smith,
L. Kratz,
R. Kelley,
D. Valle
|
7 |
1999 |
7
π
|
|
π¦
|
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.
R. Kelley
|
7 |
1995 |
7
π¦
|
|
π
|
Mutations in a Ξ8-Ξ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
8 auth.
J. Derry,
E. Gormally,
G. Means,
Wei Zhao,
A. Meindl,
R. Kelley,
...
Y. Boyd,
G. Herman
|
7 |
1999 |
7
π
|
