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Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
238 auth.
T. Lorenzini,
M. Fliegauf,
N. Klammer,
N. Frede,
M. Proietti,
A. Bulashevska,
Nadezhda Camacho-Ordonez,
M. Varjosalo,
Matias Kinnunen,
E. de Vries,
J. V. D. van der Meer,
R. Ameratunga,
C. Roifman,
Y. Schejter,
R. Kobbe,
...
T. Hautala,
F. Atschekzei,
R. Schmidt,
C. Schröder,
P. Stepensky,
Bella Shadur,
L. A. Pedroza,
M. van der Flier,
M. Martínez-Gallo,
L. González-Granado,
L. Allende,
A. Shcherbina,
N. Kuzmenko,
V. Zakharova,
J. Neves,
P. Švec,
U. Fischer,
Winnie Ip,
O. Bartsch,
S. Barış,
C. Klein,
R. Geha,
J. Chou,
M. Alosaimi,
L. Weintraub,
K. Boztug,
T. Hirschmugl,
M. M. dos Santos Vilela,
D. Holzinger,
M. Seidl,
V. Lougaris,
A. Plebani,
L. Alsina,
M. Piquer-Gibert,
À. Deyà-Martínez,
C. Slade,
A. Aghamohammadi,
Hassan Abolhassani,
L. Hammarström,
O. Kuismin,
M. Helminen,
H. L. Allen,
James E. D. Thaventhiran,
A. Freeman,
M. Cook,
S. Bakhtiar,
M. Christiansen,
C. Cunningham-Rundles,
N. Patel,
W. Rae,
T. Niehues,
N. Brauer,
J. Syrjänen,
M. Seppänen,
S. Burns,
P. Tuijnenburg,
T. Kuijpers,
K. Warnatz,
B. Grimbacher,
Z. Adhya,
H. Alachkar,
A. Anantharachagan,
R. Antrobus,
G. Arumugakani,
Sofie Ashford,
W. Astle,
A. Attwood,
C. Bacchelli,
Joana Batista,
H. Baxendale,
C. Bethune,
Shahnaz Bibi,
M. Bleda,
Barbara Boardman,
C. Booth,
J. Bradley,
G. Breen,
Matthew Brown,
M. Browning,
M. Brownlie,
M. Buckland,
O. Burren,
K. Carss,
John Chambers,
Anita Chandra,
Naomi Clements Brod,
H. Clifford,
N. Cooper,
L. Daugherty,
E. Davies,
Sophie Davies,
John Davis,
S. Deacock,
Sri V. V. Deevi,
J. Dempster,
L. Devlin,
Eleanor F. Dewhurst,
K. Downes,
E. Drewe,
Daniel Duarte,
J. D. Edgar,
Karen E. Edwards,
W. Egner,
T. El-shanawany,
M. Erwood,
Debra Fletcher,
James C. Fox,
Amy J. Frary,
M. Frontini,
A. Furnell,
H. Gaspar,
Rohit R. Ghurye,
K. Gilmour,
Nicholas S. Gleadall,
S. Goddard,
Pavels Gordins,
S. Gräf,
L. Grassi,
D. Greene,
S. Grigoriadou,
S. Hackett,
R. Hague,
M. Haimel,
L. Harper,
G. Hayman,
A. Herwadkar,
Fengyuan Hu,
S. Hughes,
A. Huissoon,
R. James,
S. Jolles,
J. Jolley,
Julie Jones,
Y. Karim,
Mary A. Kasanicki,
P. Kelleher,
Carly Kempster,
S. Kiani,
N. Kingston,
N. Klein,
Myrto A. Kostadima,
Roman Kreuzhuber,
D. Kumararatne,
J. Laffan,
S. Lear,
R. Linger,
H. Longhurst,
Lorena E. Lorenzo,
P. Lyons,
Jesmeen Maimaris,
A. Manson,
R. Mapeta,
Jennifer M. Martin,
M. McCarthy,
E. McDermott,
H. McKinney,
Stuart Meacham,
K. Megy,
H. Millar,
Anoop Mistry,
Valerie Morrisson,
S. Murng,
Iman Nasir,
S. Nejentsev,
S. Noorani,
É. Oksenhendler,
W. Ouwehand,
S. Papadia,
C. Penkett,
Romina Petersen,
Mark J. Ponsford,
W. Qasim,
Ellen Quinn,
I. Quinti,
F. Raymond,
Paula Rayner-Matthews,
A. Richter,
N. Samani,
C. Samarghitean,
Alba Sanchis-Juan,
R. Sargur,
S. Savic,
S. Seneviratne,
W. Sewell,
Denis Seyres,
F. Shackley,
O. Shamardina,
Ilenia Simeoni,
M. Simpson,
Kenneth G. C. Smith,
Simon Staines,
E. Staples,
H. Stark,
H. Stauss,
C. Steele,
J. Stephens,
K. Stirrups,
D. Thomas,
Moira J. Thomas,
Patrick Thomas,
A. Thrasher,
T. Tilly,
Catherine Titterton,
Paul Treadaway,
Salih Tuna,
E. Turro,
Rafal Urniaz,
J. von Ziegenweidt,
N. Walker,
C. Watt,
S. Welch,
Deborah Whitehorn,
L. Willcocks,
N. Wood,
Y. Wood,
S. Workman,
A. Worth,
Katherine P. Yates,
Nigel Yeatman,
P. Yong,
Tim Young,
Ping Yu,
Eliska Zlamalova
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6 |
2020 |
6
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