|
🐜
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
164 auth.
K. Carss,
G. Arno,
M. Erwood,
Jonathan Stephens,
Alba Sanchis-Juan,
S. Hull,
K. Megy,
D. Grozeva,
Eleanor F. Dewhurst,
S. Malka,
Vincent Plagnol,
C. Penkett,
K. Stirrups,
Roberta Rizzo,
G. Wright,
...
D. Josifova,
M. Bitner-Glindzicz,
Richard H. Scott,
Emma Clement,
L. Allen,
R. Armstrong,
Angela F. Brady,
Jenny Carmichael,
M. Chitre,
R. Henderson,
Jane A Hurst,
Robert E. MacLaren,
Elaine Murphy,
J. Paterson,
E. Rosser,
Dorothy A Thompson,
E. Wakeling,
W. Ouwehand,
M. Michaelides,
Anthony T. Moore,
NIHR-BioResource Rare,
Diseases Consortium,
A. R. Webster,
F. Raymond,
Professor F. Lucy,
Patrick Chandra,
Manali Chinnery,
Colin Chitre,
Emma Church,
Naomi Clement,
Virginia Clements-Brod,
Gerry Clowes,
Peter Coghlan,
Nichola Collins,
Cooper Amanda,
Rosa Creaser-Myers,
Louise DaCosta,
Sophie Daugherty,
John Davies,
Minka Davis,
Patrick De Vries,
Sri VV Deegan,
Charu Deevi,
Lisa Deshpande,
Eleanor Devlin,
Rainer Dewhurst,
Natalie Doffinger,
Elizabeth Dormand,
Drewe David Edgar,
William Egner,
Wendy N. Erber,
T. Everington,
Neeti Gattens,
Pavandeep K Ghali,
Rohit Ghataorhe,
Simon Ghurye,
Gibbs Kimberley,
Paul Gilmour,
Sarah Gissen,
Keith Goddard,
Pavel Gomez,
Gordins Stefan,
Gräf Daniel,
Greene Alan,
G. Andreas,
Greinacher Sofia,
Detelina Grigoriadou,
Scott Grozeva,
Charaka Hackett,
Rosie Hadinnapola,
Hague Matthias,
Csaba Haimel,
Tracey Halmagyi,
Daniel Hammerton,
Grant Hart,
WM HaymanJohan,
Robert Heemskerk,
Anke Henderson,
Yvonne Hensiek,
Henskens Archana,
Simon Herwadkar,
Muriel Holden,
S. Holder,
Fengyuan Holder,
Hu Aarnoud,
Marc Huissoon,
Jane Humbert,
Roger Hurst,
Stephen James,
Jolles Dragana,
Rashid Josifova,
David Kazmi,
Peter Keeling,
Anne M Kelleher,
Fiona Kelly,
David Kennedy,
Nathalie Kiely,
Ania Kingston,
Deepa Koziell,
Taco W Krishnakumar,
Dinakantha Kuijpers,
Manju Kumararatne,
Michael A Kurian,
Michele P Laffan,
Hana Lango Lambert,
Allan Allen,
Sara Lawrie,
Melissa Lear,
Claire Lees,
Lentaigne Ri,
Rachel Liesner,
Hilary Linger,
Lorena Longhurst,
Rajiv Lorenzo,
Rob Machado,
R. Mackenzie,
Eamonn MacLaren,
Jesmeen Maher,
Sarah Maimaris,
Mangles Ania,
Rutendo Manson,
Hugh S Mapeta,
Jennifer Markus,
Larahmie Martin,
Masati Mary,
Vera Mathias,
A. Matser,
Elizabeth Maw,
Coleen McDermott,
McJannet Stuart,
Sharon Meacham,
Karyn Meehan,
Sarju Megy,
Michel Mehta,
M. MichaelidesCarolyn,
Shahin Millar,
Anthony Moledina,
Nicholas Moore,
Andrew Morrell,
Sai Mumford,
Elaine Murng,
Sergey Murphy,
Sadia Nejentsev,
Paquita Noorani,
Eric Nurden,
Willem H Oksenhendler,
Sofia Ouwehand,
Soo-Mi Papadia,
Park
|
8 |
2017 |
8
🐜
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|
🐜
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
299 auth.
C. Hadinnapola,
M. Bleda,
M. Haimel,
N. Screaton,
Andrew J Swift,
P. Dorfmüller,
Stephen D. Preston,
M. Southwood,
Jules Hernández-Sánchez,
Jennifer M. Martin,
C. Treacy,
Katherine Yates,
H. Bogaard,
Colin Church,
G. Coghlan,
...
R. Condliffe,
P. Corris,
S. Gibbs,
B. Girerd,
S. Holden,
Marc Humbert,
D. Kiely,
A. Lawrie,
R. Machado,
R. M. MacKenzie Ross,
S. Moledina,
D. Montani,
M. Newnham,
A. Peacock,
J. Pepke-Zaba,
Paula Rayner-Matthews,
O. Shamardina,
F. Soubrier,
L. Southgate,
J. Suntharalingam,
M. Toshner,
R. Trembath,
A. Noordegraaf,
Martin R. Wilkins,
S. J. Wort,
J. Wharton,
S. Gräf,
N. Morrell,
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
Adrian Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
Keith Gomez,
D. Greene,
Andreas Greinacher,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
Anne M Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
David J. Perry,
K. Peerlinck,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
R. C. Tait,
K. Talks,
J. Thachil,
E. Turro,
Cheng-Hock Toh,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
S. Westbury,
A. Furnell,
R. Mapeta,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
C. Watt,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
K. Carss,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Christine J. Bryson,
Julie Anderson,
Coleen McJannet,
S. Stock,
E. Wassmer,
A. Sohal,
S. Santra,
J. Vogt,
M. Chitre,
D. Krishnakumar,
Gautum Ambegaonkar,
Anna Maw,
R. Armstrong,
Soo-Mi Park,
S. Mehta,
J. Paterson,
J. Carmichael,
L. Allen,
Anke Hensiek,
Helen V Firth,
Penelope Stein,
P. Deegan,
R. Doffinger,
Alasdair P. Parker,
M. Bitner-Glindzicz,
R. Scott,
Jane A Hurst,
E. Rosser,
Melissa Lees,
Emma Clement,
R. Henderson,
Dorothy A Thompson,
A. Gardham,
P. Gissen,
D. Josifova,
E. Thomas,
Chris Patch,
C. Deshpande,
Frances A Flinter,
M. Holder,
N. Canham,
E. Wakeling,
S. Holder,
N. Ghali,
A. Brady,
V. Clowes,
R. MacLaren,
A. Webster,
Anthony L Moore,
G. Arno,
M. Michaelides,
Julia Rankin,
M. Kurian,
Elaine Murphy,
Alba Sanchis-Juan,
D. Grozeva,
Evan Reid,
G. Woods,
M. Tischkowitz,
R. Sandford,
Sonia Ali,
A. Creaser-Myers,
V. Cookson,
Rosa Dacosta,
N. Dormand,
P. Ghataorhe,
A. Greenhalgh,
Anna E. Huis in’t Veld,
Fiona Kennedy,
R. M. MacKenzie Ross,
Larahmie Masati,
S. Meehan,
Shokri Othman,
Val Pollock,
Gary Polwarth,
Christopher J. Rhodes,
Kevin C. Rue-Albrecht,
Gwen Schotte,
Deborah Shipley,
Yvonne Tan,
Ivy Wanjiku,
John Wort,
Taco W. Kuijpers,
James E. D. Thaventhiran,
Hana Lango Allen,
E. Staples,
C. Samarghitean,
H. Alachkar,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
C. Booth,
Michael Browning,
Siobhan O. Burns,
Anita Chandra,
Nicholas J. Cooper,
Sophie Davies,
Lisa Devlin,
E. Drewe,
David Edgar,
William Egner,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
Scott Hackett,
Rosie Hague,
G. Hayman,
A. Herwadkar,
A. Huissoon,
Stephen Jolles,
P. Kelleher,
D. Kumararatne,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
Elizabeth McDermott,
S. Murng,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Isabella Quinti,
Alex Richter,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewell,
Hans-Jürgen Stauss,
Moira J. Thomas,
S. Welch,
L. Willcocks,
Nigel Yeatman,
Patrick Yong
|
6 |
2017 |
6
🐜
|
|
🐜
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
376 auth.
Yoko A. Ito,
K. Carss,
S. Duarte,
T. Hartley,
B. Keren,
M. Kurian,
I. Marey,
P. Charles,
C. Mendonca,
C. Nava,
R. Pfundt,
Alba Sanchis-Juan,
H. van Bokhoven,
A. van Essen,
C. V. van Ravenswaaij-Arts,
...
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
Nicholas W. Morrell,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
A. Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
H. Dolling,
M. Erwood,
Amy J. Frary,
R. Linger,
Jennifer M. Martin,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
J. Collins,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
J. Gebhart,
Keith Gomez,
D. Greene,
Andreas Greinacher,
P. Gresele,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
A. Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
Mike Makris,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
K. Peerlinck,
S. Revel-Vilk,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
M. Stubbs,
R. C. Tait,
K. Talks,
J. Thachil,
Cheng-Hock Toh,
E. Turro,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
Henry G. Watson,
S. Westbury,
A. Furnell,
R. Mapeta,
Paula Rayner-Matthews,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
C. Watt,
Deborah Whitehorn,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
O. Shamardina,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
M. Bleda,
K. Carss,
Stefan Gräf,
M. Haimel,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Julie Anderson,
Christine J. Bryson,
J. Carmichael,
Coleen McJannet,
S. Stock,
L. Allen,
Gautum Ambegaonkar,
R. Armstrong,
G. Arno,
Maria Bitner-Glindzicz,
A. Brady,
N. Canham,
M. Chitre,
Emma Clement,
V. Clowes,
P. Deegan,
C. Deshpande,
R. Doffinger,
H. Firth,
F. Flinter,
Courtney E. French,
A. Gardham,
N. Ghali,
P. Gissen,
D. Grozeva,
R. Henderson,
Anke Hensiek,
S. Holden,
M. Holder,
S. Holder,
Jane A Hurst,
D. Josifova,
D. Krishnakumar,
M. Kurian,
M. Lees,
R. MacLaren,
Anna Maw,
S. Mehta,
M. Michaelides,
Anthony L Moore,
Elaine Murphy,
Soo-Mi Park,
A. Parker,
Chris Patch,
J. Paterson,
Julia Rankin,
Evan Reid,
E. Rosser,
Alba Sanchis-Juan,
R. Sandford,
S. Santra,
R. Scott,
A. Sohal,
Penelope Stein,
E. Thomas,
Dorothy A Thompson,
M. Tischkowitz,
J. Vogt,
E. Wakeling,
E. Wassmer,
A. Webster,
Sonia Ali,
Souad Ali,
Harm J. Boggard,
Colin Church,
G. Coghlan,
V. Cookson,
P. Corris,
A. Creaser-Myers,
Rosa Dacosta,
N. Dormand,
M. Eyries,
Henning Gall,
P. Ghataorhe,
S. Ghio,
A. Ghofrani,
J. S. R. Gibbs,
B. Girerd,
A. Greenhalgh,
C. Hadinnapola,
A. Houweling,
M. Humbert,
Anna Huis in’t Veld,
Fiona Kennedy,
D. Kiely,
Gabor Kovacs,
A. Lawrie,
Rob V. Mackenzie Ross,
R. Machado,
Larahmie Masati,
S. Meehan,
S. Moledina,
D. Montani,
Shokri Othman,
Andrew J. Peacock,
J. Pepke-Zaba,
Val Pollock,
Gary Polwarth,
Lavanya Ranganathan,
Christopher J. Rhodes,
Kevin C. Rue-Albrecht,
Gwen Schotte,
Deborah Shipley,
Florent Soubrier,
L. Southgate,
L. Scelsi,
J. Suntharalingam,
Yvonne Tan,
M. Toshner,
C. Treacy,
R. Trembath,
A. Noordegraaf,
Sara Walker,
Ivy Wanjiku,
J. Wharton,
Martin Wilkins,
S. Wort,
Katherine Yates,
H. Alachkar,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
C. Booth,
Michael Browning,
Siobhan O. Burns,
Anita Chandra,
Nicholas J. Cooper,
Sophie Davies,
Lisa Devlin,
E. Drewe,
David Edgar,
William Egner,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
Scott Hackett,
Rosie Hague,
Lorraine Harper,
G. Hayman,
A. Herwadkar,
A. Huissoon,
Stephen Jolles,
P. Kelleher,
D. Kumararatne,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
Elizabeth McDermott,
S. Murng,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Isabella Quinti,
Alex Richter,
C. Samarghitean,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewell,
E. Staples,
Hans-Jürgen Stauss,
James E. D. Thaventhiran,
Moira J. Thomas,
S. Welch,
L. Willcocks,
Nigel Yeatman,
Patrick Yong,
P. Ancliff,
Christian Babbs,
Mark Layton,
E. Louka,
Simon McGowan,
Adam J. Mead,
Noémi Roy,
Jenny Chambers,
P. Dixon,
Cecelia Estiu,
Bill Hague,
H. Marschall,
Michael Simpson,
Sam Chong,
I. Emmerson,
Lionel Ginsberg,
D. Gosal,
R. Hadden,
R. Horvath,
M. Mahdi-Rogers,
Adnan Manzur,
Andrew Marshall,
Emma Matthews,
Mark I. McCarthy,
Mary M Reilly,
Tara Renton,
A. Rice,
Andreas Themistocleous,
Tom A Vale,
Natalie R. van Zuydam,
Suellen Walker,
L. Ormondroyd,
Gavin Hudson,
Wei Wei,
Patrick Yu Wai Man,
J. Whitworth,
M. Afzal,
Elizabeth Colby,
Moin A Saleem,
O. S. Alavijeh,
H. T. Cook,
Sally A. Johnson,
A. Levine,
Edwin K.S. Wong,
R. Tan,
Kym M. Alex Jacek Michael Dennis David Boycott MacKenzie Majewski Brudno Bulman Dyment,
K. Boycott,
Alex Mackenzie,
Jacek Majewski,
M. Brudno,
Dennis E. Bulman,
D. Dyment,
K. Boycott,
K. Kernohan,
S. Dyack,
F. Raymond
|
5 |
2018 |
5
🐜
|
|
🐜
|
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
307 auth.
G. Arno,
K. Carss,
S. Hull,
C. Zihni,
A. Robson,
A. Fiorentino,
A. Hardcastle,
G. Holder,
M. Cheetham,
V. Plagnol,
A. Moore,
F. Raymond,
K. Matter,
M. Balda,
A. R. Webster,
...
Graeme Black,
Georgina Hall,
S. Ingram,
R. Gillespie,
F. Manson,
P. Sergouniotis,
C. Inglehearn,
C. Toomes,
Manir Ali,
M. Mckibbin,
J. Poulter,
K. Khan,
Emma C. Lord,
Andrea M. Nemeth,
Susan M. Downes,
S. Halford,
Jing Yu,
S. Lise,
Nikos Ponitkos,
M. Michaelides,
V. van Heyningen,
T. Aitman,
H. Alachkar,
Sonia Ali,
L. Allen,
D. Allsup,
Gautum Ambegaonkar,
Julie Anderson,
R. Antrobus,
R. Armstrong,
G. Arumugakani,
Sofie Ashford,
W. Astle,
A. Attwood,
Steve Austin,
C. Bacchelli,
T. Bakchoul,
T. Bariana,
H. Baxendale,
David L. Bennett,
C. Bethune,
Shahnaz Bibi,
M. Bitner-Glindzicz,
M. Bleda,
Harm J. Boggard,
P. Bolton-Maggs,
C. Booth,
John R. Bradley,
A. Brady,
Matthew Brown,
Michael Browning,
Christine J. Bryson,
Siobhan O. Burns,
P. Calleja,
N. Canham,
J. Carmichael,
K. Carss,
M. Caulfield,
Elizabeth Chalmers,
Anita Chandra,
Patrick F. Chinnery,
M. Chitre,
C. Church,
E. Clement,
Naomi Clements-Brod,
V. Clowes,
G. Coghlan,
P. Collins,
Nichola H Cooper,
A. Creaser-Myers,
Rosa Dacosta,
L. Daugherty,
Sophie Davies,
John Davis,
Minka De Vries,
P. Deegan,
Sri V. V. Deevi,
C. Deshpande,
Lisa Devlin,
Eleanor F. Dewhurst,
R. Doffinger,
N. Dormand,
E. Drewe,
David Edgar,
W. Egner,
W. Erber,
M. Erwood,
T. Everington,
R. Favier,
H. Firth,
Debra Fletcher,
F. Flinter,
James C. Fox,
Amy J. Frary,
K. Freson,
B. Furie,
A. Furnell,
D. Gale,
A. Gardham,
M. Gattens,
N. Ghali,
P. Ghataorhe,
Rohit R. Ghurye,
Simon Gibbs,
K. Gilmour,
P. Gissen,
S. Goddard,
Keith Gomez,
Pavels Gordins,
S. Gräf,
D. Greene,
A. Greenhalgh,
A. Greinacher,
S. Grigoriadou,
D. Grozeva,
Scott Hackett,
C. Hadinnapola,
Rosie Hague,
M. Haimel,
Csaba Halmagyi,
Tracey Hammerton,
Daniel Hart,
G. Hayman,
J. Heemskerk,
R. Henderson,
A. Hensiek,
Y. Henskens,
A. Herwadkar,
S. Holden,
M. Holder,
S. Holder,
Fengyuan Hu,
A. Huissoon,
M. Humbert,
Jane A Hurst,
R. James,
S. Jolles,
D. Josifova,
R. Kazmi,
David Keeling,
P. Kelleher,
A. Kelly,
Fiona Kennedy,
David Kiely,
N. Kingston,
A. Koziell,
D. Krishnakumar,
Taco W. Kuijpers,
D. Kumararatne,
M. Kurian,
M. Laffan,
Michele P. Lambert,
H. L. Allen,
A. Lawrie,
S. Lear,
M. Lees,
C. Lentaigne,
R. Liesner,
R. Linger,
Hilary J. Longhurst,
Lorena E. Lorenzo,
R. Machado,
R. Mackenzie,
R. MacLaren,
E. Maher,
Jesmeen Maimaris,
S. Mangles,
A. Manson,
R. Mapeta,
Hugh S. Markus,
Jennifer M. Martin,
Larahmie Masati,
M. Mathias,
Vera Matser,
Anna Maw,
Elizabeth McDermott,
Coleen McJannet,
Stuart Meacham,
S. Meehan,
K. Megy,
S. Mehta,
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Julia Rankin,
Karola Rehnstrom,
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Nigel Yeatman,
Patrick Yong,
Tim Young,
Ping Yu
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4 |
2017 |
4
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|
🐜
|
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
13 auth.
S. Hull,
M. Attanasio,
G. Arno,
K. Carss,
A. Robson,
Dorothy A Thompson,
V. Plagnol,
M. Michaelides,
G. Holder,
Robert H. Henderson,
...
F. Raymond,
Anthony T. Moore,
A. R. Webster
|
4 |
2017 |
4
🐜
|
|
🐜
|
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
15 auth.
Siying Lin,
A. Robson,
Dorothy A Thompson,
Karolina M. Stepien,
Robin Lachmann,
E. Footitt,
Ola Czyz,
Shwetha Chandrasekhar,
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...
Graeme C. Black,
M. Michaelides,
O. Mahroo,
G. Arno,
A. Webster
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0 |
2024 |
0
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