|
🐢
|
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
7 auth.
T. Vulliamy,
A. Marrone,
F. Goldman,
A. Dearlove,
M. Bessler,
P. Mason,
...
I. Dokal
|
9 |
2001 |
9
🐢
|
|
🐢
|
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
8 auth.
N. Heiss,
S. Knight,
T. Vulliamy,
S. Klauck,
S. Wiemann,
P. Mason,
...
A. Poustka,
I. Dokal
|
9 |
1998 |
9
🐢
|
|
🐜
|
Guidelines for the diagnosis and management of adult aplastic anaemia
14 auth.
S. Killick,
N. Bown,
J. Cavenagh,
I. Dokal,
T. Foukaneli,
A. Hill,
P. Hillmen,
R. Ireland,
A. Kulasekararaj,
G. Mufti,
...
J. Snowden,
S. Samarasinghe,
Anna Wood,
J. Marsh
|
9 |
2016 |
9
🐜
|
|
🦁
|
Dyskeratosis congenita in all its forms
I. Dokal
|
9 |
2000 |
9
🦁
|
|
🐜
|
Guidelines for the diagnosis and management of aplastic anaemia
13 auth.
J. Marsh,
S. Ball,
J. Cavenagh,
P. Darbyshire,
I. Dokal,
E. Gordon-Smith,
J. Keidan,
A. Laurie,
Anna Martin,
J. Mercieca,
...
S. Killick,
R. Stewart,
J. Yin
|
9 |
2009 |
9
🐜
|
|
🐜
|
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
14 auth.
A. R. Meetei,
A. Medhurst,
Chen Ling,
Yutong Xue,
T. R. Singh,
Patrick Bier,
Jûrgen Steltenpool,
S. Stone,
I. Dokal,
C. Mathew,
...
M. Hoatlin,
H. Joenje,
J. Winter,
Weidong Wang
|
8 |
2005 |
8
🐜
|
|
🐢
|
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
T. Vulliamy,
A. Marrone,
Richard Szydlo,
A. Walne,
P. Mason,
I. Dokal
|
8 |
2004 |
8
🐢
|
|
🐢
|
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
7 auth.
T. Vulliamy,
R. Beswick,
M. Kirwan,
A. Marrone,
M. Digweed,
A. Walne,
...
I. Dokal
|
8 |
2008 |
8
🐢
|
|
🐢
|
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
T. Vulliamy,
A. Marrone,
S. Knight,
A. Walne,
P. Mason,
I. Dokal
|
8 |
2006 |
8
🐢
|
|
🐢
|
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
9 auth.
A. Walne,
T. Vulliamy,
A. Marrone,
R. Beswick,
M. Kirwan,
Yuka Masunari,
...
Fat-hia Al-Qurashi,
M. Aljurf,
I. Dokal
|
8 |
2007 |
8
🐢
|
|
🐢
|
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
A. Walne,
T. Vulliamy,
R. Beswick,
M. Kirwan,
I. Dokal
|
8 |
2008 |
8
🐢
|
|
🐬
|
Association between aplastic anaemia and mutations in telomerase RNA
T. Vulliamy,
A. Marrone,
I. Dokal,
P. Mason
|
8 |
2002 |
8
🐬
|
