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Whole-genome sequencing of patients with rare diseases in a national health system
452 auth.
E. Turro,
W. Astle,
K. Megy,
S. Gräf,
D. Greene,
O. Shamardina,
H. L. Allen,
Alba Sanchis-Juan,
M. Frontini,
C. Thys,
J. Stephens,
R. Mapeta,
O. Burren,
K. Downes,
M. Haimel,
...
Salih Tuna,
Sri V. V. Deevi,
T. Aitman,
David L. Bennett,
P. Calleja,
K. Carss,
M. Caulfield,
P. Chinnery,
P. Dixon,
D. Gale,
R. James,
A. Koziell,
M. Laffan,
A. Levine,
E. Maher,
H. Markus,
Joannella Morales,
N. Morrell,
A. Mumford,
E. Ormondroyd,
Stuart Rankin,
A. Rendon,
S. Richardson,
I. Roberts,
N. Roy,
M. Saleem,
Kenneth G. C. Smith,
H. Stark,
R. Tan,
Andreas C Themistocleous,
A. Thrasher,
H. Watkins,
A. Webster,
M. Wilkins,
C. Williamson,
J. Whitworth,
S. Humphray,
D. Bentley,
S. Abbs,
L. Abulhoul,
J. Adlard,
Munaza Ahmed,
H. Alachkar,
D. Allsup,
J. Almeida-King,
P. Ancliff,
R. Antrobus,
R. Armstrong,
G. Arno,
Sofie Ashford,
A. Attwood,
P. Aurora,
C. Babbs,
C. Bacchelli,
T. Bakchoul,
S. Banka,
T. Bariana,
J. Barwell,
Joana Batista,
H. Baxendale,
P. Beales,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
G. Black,
M. Bleda,
Iulia Blesneac,
D. Bockenhauer,
H. Bogaard,
Christian J. Bourne,
S. Boyce,
J. Bradley,
E. Bragin,
G. Breen,
P. Brennan,
C. Brewer,
Matthew Brown,
A. Browning,
M. Browning,
R. Buchan,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
J. Burn,
S. Burns,
N. Burrows,
Carolyn Campbell,
G. Carr-White,
R. Casey,
Jenny Chambers,
John Chambers,
M. Chan,
Calvin Cheah,
F. Cheng,
M. Chitre,
M. Christian,
C. Church,
J. Clayton-Smith,
M. Cleary,
Naomi Clements Brod,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
Camilla Colombo,
C. Compton,
R. Condliffe,
S. Cook,
H. Cook,
Nichola H Cooper,
P. Corris,
A. Furnell,
Fiona Cunningham,
N. Curry,
A. Cutler,
M. Daniels,
M. Dattani,
L. Daugherty,
John Davis,
A. De Soyza,
Timothy Dent,
C. Deshpande,
Eleanor F. Dewhurst,
S. Douzgou,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
J. Edgar,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
P. Elliott,
W. Erber,
M. Erwood,
M. Estiú,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
H. Fassihi,
R. Favier,
J. Findhammer,
Debra Fletcher,
F. Flinter,
R. Floto,
T. Fowler,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
H. Gall,
V. Ganesan,
M. Gattens,
C. Geoghegan,
Terence S. A. Gerighty,
A. Gharavi,
S. Ghio,
H. Ghofrani,
J. Gibbs,
Kate Gibson,
K. Gilmour,
B. Girerd,
Nicholas S. Gleadall,
S. Goddard,
D. Goldstein,
K. Gomez,
Pavels Gordins,
D. Gosal,
J. Graham,
L. Grassi,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Grigoriadou,
R. Grocock,
D. Grozeva,
M. Gurnell,
S. Hackett,
C. Hadinnapola,
W. Hague,
R. Hague,
M. Hall,
H. Hanson,
Eshika Haque,
K. Harkness,
A. Harper,
Claire L. Harris,
D. Hart,
Ahamad Hassan,
G. Hayman,
A. Henderson,
A. Herwadkar,
Jonathan Hoffman,
S. Holden,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
J. Hughes,
A. Huissoon,
M. Humbert,
Sarah Hunter,
Matthew Hurles,
M. Irving,
L. Izatt,
Sally A. Johnson,
S. Jolles,
J. Jolley,
D. Josifova,
Neringa Jurkute,
Tim Karten,
J. Karten,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
P. Kelleher,
A. Kelly,
W. Kelsall,
Carly Kempster,
D. Kiely,
N. Kingston,
R. Klima,
Nils Koelling,
Myrto A. Kostadima,
G. Kovacs,
Roman Kreuzhuber,
T. Kuijpers,
Ajith Kumar,
D. Kumararatne,
M. Kurian,
F. Lalloo,
Michele P. Lambert,
A. Lawrie,
D. M. Layton,
N. Lench,
C. Lentaigne,
T. Lester,
R. Linger,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
P. Lyons,
R. Machado,
R. M. MacKenzie Ross,
B. Madan,
Jesmeen Maimaris,
S. Malka,
S. Mangles,
K. Marchbank,
S. Marks,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
M. Mathias,
E. Matthews,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
H. McKinney,
A. McMahon,
Stuart Meacham,
A. Mead,
Ignacio Castelló,
S. Mehta,
M. Michaelides,
C. Millar,
S. Mohammed,
S. Moledina,
D. Montani,
A. Moore,
M. Mozere,
K. Muir,
A. Nemeth,
W. G. Newman,
M. Newnham,
S. Noorani,
P. Nurden,
J. O'Sullivan,
S. Obaji,
C. Odhams,
S. Okoli,
A. Olschewski,
H. Olschewski,
K. Ong,
S. Oram,
W. Ouwehand,
C. Palles,
S. Papadia,
Soo-Mi Park,
D. Parry,
Smita Y. Patel,
J. Paterson,
A. Peacock,
S. H. Pearce,
J. Peden,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
Romina Petersen,
C. Pilkington,
Ken Poole,
Radhika Prathalingam,
B. Psaila,
A. Pyle,
R. Quinton,
S. Rahman,
A. Rao,
F. Raymond,
Paula Rayner-Matthews,
Christine Rees,
T. Renton,
Christopher J. Rhodes,
Andrew S C Rice,
A. Richter,
L. Robert,
Anthony Rogers,
S. Rose,
R. Ross-Russell,
Catherine Roughley,
D. Ruddy,
O. Sadeghi-Alavijeh,
N. Samani,
C. Samarghitean,
R. Sargur,
R. Sarkany,
S. Satchell,
S. Savic,
J. Sayer,
G. Sayer,
L. Scelsi,
A. Schaefer,
Sol Schulman,
R. Scott,
M. Scully,
C. Searle,
W. Seeger,
Arjune Sen,
W. Sewell,
Denis Seyres,
N. Shah,
S. Shapiro,
A. Shaw,
Patrick J. Short,
Keith R Sibson,
L. Side,
Ilenia Simeoni,
Michael Simpson,
M. C. Sims,
S. Sivapalaratnam,
D. Smedley,
Katherine R. Smith,
K. Snape,
N. Soranzo,
F. Soubrier,
L. Southgate,
O. Spasic-Boskovic,
Simon Staines,
E. Staples,
C. Steward,
K. Stirrups,
A. Stuckey,
J. Suntharalingam,
E. Swietlik,
P. Syrris,
R. Tait,
K. Talks,
Katie Tate,
John M. Taylor,
Jenny C. Taylor,
James E. D. Thaventhiran,
E. Thomas,
D. Thomas,
Moira J. Thomas,
Patrick Thomas,
K. Thomson,
Glen Threadgold,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
J. Todd,
C. Toh,
B. Tolhuis,
I. Tomlinson,
M. Toshner,
M. Traylor,
C. Treacy,
Paul Treadaway,
R. Trembath,
Wojciech Turek,
E. Turro,
Philip Twiss,
Tom A Vale,
C. Geet,
N. Zuydam,
Maarten Vandekuilen,
A. Vandersteen,
Marta Vazquez-Lopez,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
Annette Wagner,
Q. Waisfisz,
S. Walker,
Neil E. Walker,
Klaudia Walter,
J. Ware,
C. Watt,
L. Wedderburn,
Wei Wei,
S. Welch,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
A. Wilkie,
Brian T. Wilson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Wort,
A. Worth,
Michael Wright,
Katherine Yates,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
F. Raymond,
W. Ouwehand
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8 |
2020 |
8
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
164 auth.
P. Tuijnenburg,
Hana Lango Allen,
Siobhan O. Burns,
D. Greene,
Machiel H. Jansen,
E. Staples,
J. Stephens,
K. Carss,
D. Biasci,
Helen E. Baxendale,
Moira J. Thomas,
Anita Chandra,
S. Kiani-Alikhan,
Hilary J. Longhurst,
Suranjith L. Seneviratne,
...
Eric Oksenhendler,
Ilenia Simeoni,
G. D. de Bree,
A. Tool,
E. V. van Leeuwen,
E. Ebberink,
A. Meijer,
Salih Tuna,
Deborah Whitehorn,
Matthew Brown,
E. Turro,
A. Thrasher,
Kenneth G. C. Smith,
James E. D. Thaventhiran,
Taco W. Kuijpers,
Z. Adhya,
H. Alachkar,
A. Anantharachagan,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
Barbara Boardman,
C. Booth,
Michael Browning,
M. Brownlie,
Siobhan O. Burns,
Anita Chandra,
H. Clifford,
Nichola H Cooper,
Sophie Davies,
J. Dempster,
L. Devlin,
R. Doffinger,
E. Drewe,
D. Edgar,
W. Egner,
T. El-shanawany,
B. Gaspar,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
S. Hackett,
R. Hague,
L. Harper,
G. Hayman,
A. Herwadkar,
Stephen Hughes,
A. Huissoon,
S. Jolles,
Julie Jones,
P. Kelleher,
N. Klein,
Taco W. Kuijpers,
D. Kumararatne,
J. Laffan,
Hana Lango Allen,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
E. McDermott,
H. Millar,
Anoop Mistry,
Valerie Morrisson,
S. Murng,
Iman Nasir,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Ellen Quinn,
I. Quinti,
A. Richter,
C. Samarghitean,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewall,
F. Shackley,
Ilenia Simeoni,
Kenneth G. C. Smith,
E. Staples,
H. Stauss,
C. Steele,
James E. D. Thaventhiran,
Moira J. Thomas,
A. Thrasher,
S. Welch,
L. Willcocks,
S. Workman,
A. Worth,
Nigel Yeatman,
P. Yong,
Sofie Ashford,
J. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
W. Ouwehand,
C. Penkett,
F. Raymond,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
Jennifer M. Martin,
S. Papadia,
Karola Rehnstrom,
W. Astle,
A. Attwood,
M. Bleda,
K. Carss,
L. Daugherty,
Sri V. V. Deevi,
S. Graf,
D. Greene,
Csaba Halmagyi,
M. Haimel,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
O. Shamardina,
Catherine Titterton,
Salih Tuna,
E. Turro,
Ping Yu,
Julie von Ziegenweldt,
A. Furnell,
R. Mapeta,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
Paula Rayner-Matthews,
C. Watt
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7 |
2018 |
7
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Whole genome sequencing of a sporadic primary immunodeficiency cohort
602 auth.
James E. D. Thaventhiran,
Hana Lango Allen,
O. Burren,
W. Rae,
D. Greene,
E. Staples,
Zinan Zhang,
J. H. Farmery,
Ilenia Simeoni,
E. Rivers,
Jesmeen Maimaris,
C. Penkett,
J. Stephens,
Sri V. V. Deevi,
Alba Sanchis-Juan,
...
Nicholas S. Gleadall,
Moira J. Thomas,
R. Sargur,
Pavels Gordins,
H. Baxendale,
Matthew Brown,
P. Tuijnenburg,
A. Worth,
S. Hanson,
R. Linger,
M. Buckland,
Paula Rayner-Matthews,
K. Gilmour,
C. Samarghitean,
S. Seneviratne,
D. Sansom,
A. Lynch,
K. Megy,
E. Ellinghaus,
D. Ellinghaus,
S. Jørgensen,
T. Karlsen,
K. Stirrups,
A. Cutler,
D. Kumararatne,
Anita Chandra,
J. D. Edgar,
A. Herwadkar,
Nichola H Cooper,
S. Grigoriadou,
A. Huissoon,
S. Goddard,
S. Jolles,
C. Schuetz,
Felix Boschann,
S. Abbs,
Z. Adhya,
J. Adlard,
M. Afzal,
I. Ahmed,
Munaza Ahmed,
Saeed Ahmed,
T. Aitman,
H. Alachkar,
J. Alamelu,
R. Alikhan,
C. Allen,
L. Allen,
D. Allsup,
Arif Alvi,
G. Ambegaonkar,
A. Anantharachagan,
P. Ancliff,
Julie Anderson,
R. Antrobus,
R. Armstrong,
G. Arno,
G. Arumugakani,
R. Arya,
Sofie Ashford,
W. Astle,
A. Attwood,
S. Austin,
Y. Aydinok,
Waqar Ayub,
C. Babbs,
C. Bacchelli,
T. Baglin,
T. Bakchoul,
T. Bariana,
J. Barratt,
J. Barwell,
John Baski,
R. Bates,
Joana Batista,
G. Baynam,
David L. Bennett,
C. Bethune,
N. Bhatnagar,
Shahnaz Bibi,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
M. Bleda,
Iulia Blesneac,
Barbara Boardman,
P. Boddana,
H. Bogaard,
C. Booth,
S. Boyce,
J. Bradley,
A. Brady,
G. Breen,
P. Brennan,
C. Brewer,
A. Briley,
Richard Brown,
M. Browning,
M. Brownlie,
Christine J. Bryson,
R. Buchan,
J. Buck,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
S. Burns,
P. Calleja,
J. Carmichael,
G. Carr-White,
K. Carss,
R. Casey,
E. Chalmers,
Jenny Chambers,
John Chambers,
M. Chan,
Melissa V. Chan,
F. Cheng,
Ivan K. Chinn,
P. Chinnery,
M. Chitre,
S. Chong,
M. Christian,
C. Church,
E. Clement,
Naomi Clements Brod,
H. Clifford,
V. Clowes,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
R. Condliffe,
H. Cook,
S. Cook,
V. Cookson,
P. Corris,
A. Creaser-Myers,
Abigail Crisp-Hihn,
N. Curry,
Rosa Da Costa,
C. Danesino,
M. Daniels,
D. Darby,
L. Daugherty,
E. Davies,
Sophie Davies,
John Davis,
G. D. de Bree,
S. Deacock,
P. Deegan,
Sri V. V. Deevi,
J. Dempster,
Timothy Dent,
C. Deshpande,
L. Devlin,
Eleanor F. Dewhurst,
A. Dixit,
P. Dixon,
R. Doffinger,
H. Dolling,
N. Dormand,
K. Downes,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
T. El-shanawany,
S. Elkhalifa,
T. Elston,
I. Emmerson,
W. Erber,
M. Erwood,
M. Estiú,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
R. Favier,
H. Firth,
Maggie M. Fitzpatrick,
Debra Fletcher,
F. Flinter,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
M. Frontini,
B. Furie,
D. Gale,
H. Gall,
A. Gardham,
H. Gaspar,
M. Gattens,
N. Ghali,
P. Ghataorhe,
S. Ghio,
H. Ghofrani,
Rohit R. Ghurye,
J. Gibbs,
R. Gilbert,
B. Girerd,
J. Girling,
P. Gissen,
K. Gorman,
D. Gosal,
S. Graf,
L. Grassi,
A. Greenhalgh,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Griffiths,
D. Grozeva,
S. Hackett,
R. Hadden,
C. Hadinnapola,
R. Hague,
W. Hague,
M. Haimel,
M. Hall,
Csaba Halmagyi,
Tracey Hammerton,
H. Hanson,
K. Harkness,
A. Harper,
L. Harper,
Claire L. Harris,
C. Harrison,
D. Hart,
Ahamad Hassan,
G. Hayman,
J. Heemskerk,
S. Hegde,
A. Henderson,
R. Henderson,
A. Hensiek,
Y. Henskens,
J. Hodgson,
Jonathan Hoffman,
S. Holden,
M. Holder,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
Sean Hughes,
Stephen Hughes,
A. E. Huis in ‘t Veld,
M. Humbert,
M. Hurles,
J. Hurst,
V. Irvine,
L. Izatt,
R. James,
P. Jeevaratnam,
M. Johnson,
Sally A. Johnson,
J. Jolley,
Bryony Jones,
Julie Jones,
D. Josifova,
Neringa Jurkute,
Yousuf M. Karim,
M. Karoshi,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
D. Keeling,
P. Kelleher,
A. Kelly,
Carly Kempster,
F. Kennedy,
S. Kiani,
D. Kiely,
N. Kingston,
S. Kinsey,
N. Klein,
R. Klima,
E. Knox,
Myrto A. Kostadima,
G. Kovacs,
A. Koziell,
Roman Kreuzhuber,
D. Krishnakumar,
T. Kuijpers,
Ajith Kumar,
M. Kurian,
J. Laffan,
M. Laffan,
F. Lalloo,
Michele P. Lambert,
Hana Lango Allen,
S. Lawman,
A. Lawrie,
D. M. Layton,
S. Lear,
M. Lees,
C. Lentaigne,
A. Levine,
A. Lewington,
Wei Li,
R. Liesner,
B. Liu,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
Silvia Lucato Hadeler,
Paul A. Lyons,
M. Macdougall,
R. Machado,
R. M. MacKenzie Ross,
L. Mackillop,
R. MacLaren,
B. Madan,
Laura Magee,
M. Mahdi-Rogers,
E. Maher,
M. Makris,
S. Mangles,
A. Manson,
A. Manzur,
R. Mapeta,
K. Marchbank,
P. Mark,
S. Marks,
H. Markus,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
Larahmie Masati,
M. Mathias,
Vera Matser,
E. Matthews,
A. Maw,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
E. McDermott,
S. McGowan,
Coleen McJannet,
H. McKinney,
Stuart Meacham,
A. Mead,
Ignacio Castelló,
S. Meehan,
K. Megy,
S. Mehta,
C. Mercer,
M. Michaelides,
Anna C. Michell,
D. Milford,
C. Millar,
H. Millar,
Anoop Mistry,
F. Moenen,
S. Moledina,
D. Montani,
A. Moore,
Jason Moore,
N. Morrell,
Valerie Morrisson,
M. Mozere,
K. Muir,
A. Mumford,
S. Murng,
Iman Nasir,
S. Nejentsev,
M. Newnham,
J. Ng,
A. Ngoh,
S. Noorani,
M. Noori,
P. Nurden,
J. O'Sullivan,
S. Obaji,
S. Okoli,
É. Oksenhendler,
A. Olschewski,
H. Olschewski,
A. Ong,
K. Ong,
Helen Oram,
E. Ormondroyd,
Shokri Othman,
W. Ouwehand,
A. Pantazis,
S. Papadia,
A. Papandreou,
Soo-Mi Park,
A. Parker,
D. Parry,
Georgina Parsons,
K. Pasi,
J. Paterson,
J. Payne,
A. Peacock,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
D. Perry,
Romina Petersen,
B. Piechowski-Jóźwiak,
F. Pinto,
Gary Polwarth,
Mark J. Ponsford,
S. Prasad,
I. Prokopenko,
B. Psaila,
A. Pyle,
W. Qasim,
Ellen Quinn,
I. Quinti,
S. Raina,
Lavanya Ranganathan,
J. Rankin,
Stuart Rankin,
A. Rao,
F. L. Raymond,
Karola Rehnstrom,
E. Reid,
M. Reilly,
T. Renton,
S. Revel-Vilk,
Christopher J. Rhodes,
Andrew S C Rice,
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38 auth.
Sarah Spencer,
S. Köstel Bal,
W. Egner,
Hana Lango Allen,
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Meltem Gürel,
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2019 |
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35 auth.
J. Hurst,
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Cryoglobulin evaluation: best practice?
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Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
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M. Alimohammadi,
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F. Sköldberg,
Å. Hallgren,
I. Tardivel,
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J. Haavik,
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J. Gustafsson,
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2009 |
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Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
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T. Lorenzini,
M. Fliegauf,
N. Klammer,
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M. Proietti,
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Nadezhda Camacho-Ordonez,
M. Varjosalo,
Matias Kinnunen,
E. de Vries,
J. V. D. van der Meer,
R. Ameratunga,
C. Roifman,
Y. Schejter,
R. Kobbe,
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T. Hautala,
F. Atschekzei,
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Tim Young,
Ping Yu,
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2020 |
6
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