|
🐜
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
37 auth.
T. Cullup,
A. Kho,
C. Dionisi-Vici,
B. Brandmeier,
Frances Smith,
Z. Urry,
M. Simpson,
S. Yau,
E. Bertini,
V. McClelland,
M. Al‐Owain,
S. Koelker,
C. Koerner,
G. Hoffmann,
F. Wijburg,
...
A. E. Hoedt,
Curtis R Rogers,
D. Manchester,
R. Miyata,
M. Hayashi,
E. Said,
D. Soler,
P. Kroisel,
C. Windpassinger,
F. Filloux,
S. Al-Kaabi,
J. Hertecant,
M. Del Campo,
S. Buk,
I. Bodi,
H. Goebel,
C. Sewry,
S. Abbs,
S. Mohammed,
D. Josifova,
M. Gautel,
H. Jungbluth
|
7 |
2012 |
7
🐜
|
|
🐜
|
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
22 auth.
P. Bonnen,
J. W. Yarham,
A. Besse,
Ping Wu,
E. Faqeih,
A. Al-Asmari,
M. A. Saleh,
W. Eyaid,
Alrukban Hadeel,
Langping He,
...
Frances Smith,
S. Yau,
Eve M. Simcox,
S. Miwa,
T. Donti,
K. Abu-Amero,
L. Wong,
W. Craigen,
B. Graham,
K. Scott,
R. Mcfarland,
Robert W. Taylor
|
7 |
2013 |
7
🐜
|
|
🦁
|
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
13 auth.
Frances Smith,
L. D. Corden,
E. Rugg,
R. Ratnavel,
I. Leigh,
C. Moss,
M. Tidman,
D. Hohl,
M. Huber,
L. Kunkeler,
...
C. Munro,
E. Birgitte Lane,
W. H. Irwin McLean
|
7 |
1997 |
7
🦁
|
|
🐜
|
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
13 auth.
N. Dlamini,
D. Josifova,
S. Paine,
E. Wraige,
M. Pitt,
Amanda J Murphy,
A. King,
S. Buk,
Frances Smith,
S. Abbs,
...
C. Sewry,
T. Jacques,
H. Jungbluth
|
5 |
2013 |
5
🐜
|
|
🐜
|
Vici sy Nature Cullup et al. (Supplemental Information)
37 auth.
T. Cullup,
A. Kho,
C. Dionisi-Vici,
B. Brandmeier,
Frances Smith,
Z. Urry,
M. Simpson,
S. Yau,
E. Bertini,
V. McClelland,
M. Al‐Owain,
S. Koelker,
C. Koerner,
G. Hoffmann,
F. Wijburg,
...
A. E. Hoedt,
R. C. Rogers,
D. Manchester,
R. Miyata,
M. Hayashi,
E. Said,
D. Soler,
P. Kroisel,
C. Windpassinger,
F. Filloux,
S. Al-Kaabi,
J. Hertecant,
M. Campo,
S. Buk,
I. Bodi,
H. Goebel,
C. Sewry,
S. Abbs,
S. Mohammed,
D. Josifova,
M. Gautel,
H. Jungbluth
|
0 |
2013 |
0
🐜
|
