|
🐜
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Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition)
8 auth.
P. Collins,
E. Chalmers,
D. Hart,
R. Liesner,
S. Rangarajan,
K. Talks,
...
Mike Williams,
C. Hay
|
7 |
2013 |
7
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|
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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
34 auth.
Ben Johnson,
G. Lowe,
J. Futterer,
M. Lordkipanidzé,
D. MacDonald,
M. Simpson,
I. Sánchez-Guiu,
Sian Drake,
D. Bem,
Vincenzo C. Leo,
Sarah J. Fletcher,
B. Dawood,
J. Rivera,
D. Allsup,
T. Biss,
...
P. Bolton-Maggs,
P. Collins,
N. Curry,
C. Grimley,
Beki James,
M. Makris,
J. Motwani,
S. Pavord,
Katherine Talks,
J. Thachil,
J. Wilde,
Mike Williams,
P. Harrison,
P. Gissen,
S. Mundell,
A. Mumford,
M. Daly,
S. Watson,
N. Morgan
|
6 |
2016 |
6
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|
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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
16 auth.
H. Tummala,
A. Walne,
Mike Williams,
N. Bockett,
L. Collopy,
S. Cardoso,
A. Ellison,
R. Wynn,
T. Leblanc,
J. Fitzgibbon,
...
D. Kelsell,
D. V. van Heel,
Elspeth M. Payne,
V. Plagnol,
I. Dokal,
T. Vulliamy
|
6 |
2016 |
6
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|
🐜
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Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
10 auth.
A. Marrone,
P. Sokhal,
A. Walne,
R. Beswick,
M. Kirwan,
S. Killick,
...
Mike Williams,
J. Marsh,
T. Vulliamy,
I. Dokal
|
6 |
2007 |
6
🐜
|
|
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Mutation in GNE is associated with severe congenital thrombocytopenia.
9 auth.
J. Futterer,
A. Dalby,
G. Lowe,
Ben Johnson,
M. Simpson,
J. Motwani,
...
Mike Williams,
S. Watson,
N. Morgan
|
5 |
2018 |
5
🐜
|
|
🐜
|
A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
17 auth.
Ben Johnson,
Rachel Doak,
D. Allsup,
Emma Astwood,
G. Evans,
C. Grimley,
Beki James,
B. Myers,
S. Stokley,
J. Thachil,
...
J. Wilde,
Mike Williams,
M. Makris,
G. Lowe,
Y. Wallis,
M. Daly,
N. Morgan
|
4 |
2018 |
4
🐜
|
|
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Risk Factors for the Progression from Low to High Titres in 260 Children with Severe Haemophilia A and Newly Developed Inhibitors
22 auth.
M. Mancuso,
K. Fischer,
E. Santagostino,
J. Oldenburg,
H. Platokouki,
C. Königs,
C. Escuriola-Ettingshausen,
G. Rivard,
A. Cid,
M. Carcao,
...
R. Ljung,
P. Petrini,
C. Altisent,
G. Kenet,
R. Liesner,
K. Kurnik,
G. Auerswald,
H. Chambost,
A. Mäkipernaa,
A. Molinari,
Mike Williams,
H. M. van den Berg
|
3 |
2017 |
3
🐜
|
|
🐜
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Predictive value of flow cytometric minimal residual disease analysis in childhood acute lymphoblastic leukaemia at the end of remission induction therapy – results from a single UK centre
11 auth.
J. Motwani,
Jenny Jesson,
E. Sturch,
Sue Jones,
L. Eyre,
P. Short,
...
P. Davies,
Mike Williams,
P. Darbyshire,
F. Hill,
S. Lawson
|
3 |
2009 |
3
🐜
|
|
🐜
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1 MUTATION IN GNE IS ASSOCIATED WITH A SEVERE FORM OF CONGENITAL THROMBOCYTOPENIA
9 auth.
J. Futterer,
A. Dalby,
G. Lowe,
Ben Johnson,
M. Simpson,
J. Motwani,
...
Mike Williams,
S. Watson,
N. Morgan
|
2 |
2018 |
2
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|
