M. Splitt
发表
Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
Janet M Thornton,
Roman A Laskowski,
Caroline F Wright,
2017,
Molecular genetics & genomic medicine.
Alessandro,
G. J. Swaminathan,
A. Green,
2019
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G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
J. Simpson,
H. Gill,
M. Splitt,
2003,
Journal of the American College of Cardiology.
James D Stephenson,
Patrick J. Short,
Andrew R. Bassett,
2017,
Science.
James D Stephenson,
Patrick J. Short,
M. Hurles,
2017
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A. Munnich,
H. Kayserili,
A. Verloes,
2018,
European Journal of Human Genetics.
J. Thornton,
R. Laskowski,
H. Firth,
2016,
Human molecular genetics.
William J. Astle,
Sri V. V. Deevi,
Kenneth G. C. Smith,
2018,
Nature.
J. Simpson,
H. Gill,
M. Splitt,
2008
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J. Rosenfeld,
Yaping Yang,
F. Xia,
2016,
Neurology: Genetics.
R. Regan,
J. Flint,
S. Knight,
2001,
Journal of medical genetics.
S. Seal,
N. Rahman,
I. Temple,
2013,
American journal of medical genetics. Part A.
C. Ogilvie,
D. Josifova,
M. Splitt,
2006,
American journal of medical genetics. Part A.
I. Temple,
C. Gicquel,
D. Mackay,
2011,
European Journal of Human Genetics.
Alison M. Male,
S. Sisodiya,
C. Brownstein,
2022,
Neurology.
A. Rauch,
M. Splitt,
G. Tanteles,
2006,
Clinical dysmorphology.
J. Hurst,
P. Clouston,
E. Giannoulatou,
2022,
bioRxiv.
Golder N Wilson,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
M. Splitt,
A. Dubois,
N. Rajan,
2016,
Clinical and experimental dermatology.
J. Clayton-Smith,
S. Ellard,
K. Stals,
2018,
European Journal of Human Genetics.
J. Goodship,
J. Burn,
J. Goodship,
1996,
Journal of medical genetics.
W. Reardon,
G. Mortier,
O. Klein,
2011,
American journal of medical genetics. Part A.
A. V. Vulto-van Silfhout,
R. Pfundt,
B. D. de Vries,
2019,
Genetics in Medicine.
C. Ogilvie,
M. Splitt,
D. Maxwell,
2003,
European Journal of Human Genetics.
A. Pickles,
D. Baralle,
T. Charman,
2022,
Molecular autism.
Renzo Guerrini,
William B Dobyns,
Dawn Earl,
2006,
American journal of medical genetics. Part A.
Carol J. Saunders,
C. Saunders,
W. Newman,
2021,
Nature communications.
M. Splitt,
C. Moss,
N. Rajan,
2017,
The British journal of dermatology.
J. Clayton-Smith,
B. Lorenz,
I. Temple,
2016,
PloS one.
Stephen,
Anthony,
I..,
2016
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T. Berney,
K. Davies,
S. Knight,
1996,
American journal of human genetics.
Joan,
Caroline,
Rajan,
2017,
Nature.
Patrick J. Short,
M. Hurles,
L. Vissers,
2020,
Nature.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2016,
bioRxiv.
Joshua C Randall,
G. J. Swaminathan,
A. Green,
2019
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M. Hurles,
R. Sandford,
D. Baralle,
2020,
Nature Communications.
Katrina Tatton-Brown,
Nazneen Rahman,
Elise Ruark,
2011,
Oncotarget.
S. Scherer,
B. Chung,
C. Cytrynbaum,
2020,
American journal of human genetics.
A. V. Vulto-van Silfhout,
A. Hoischen,
D. Horn,
2013,
Human mutation.
Bradley P. Coe,
Jessie H. Conta,
B. Coe,
2015,
European Journal of Human Genetics.
S. Hellens,
M. Splitt,
S. Zwolinski,
2012,
Clinical dysmorphology.
A. Green,
M. Parker,
B. Castle,
2018,
American journal of medical genetics. Part A.
A. Karmiloff-Smith,
J. Grant,
W. Reardon,
1999,
American journal of human genetics.
Martin S. Taylor,
A. Green,
M. Bitner-Glindzicz,
2014,
Journal of Medical Genetics.
William J. Astle,
Sri V. V. Deevi,
Kenneth G. C. Smith,
2020,
Nature.
J. Goodship,
M. Splitt,
1997,
American journal of medical genetics.
M. Brudno,
J. Tolmie,
D. Sharon,
2015,
Nature Communications.
D. Sharon,
Rui Chen,
P. Chinnery,
2015
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N. Rahman,
W. Reardon,
A. Collins,
2005,
Journal of Medical Genetics.
W. Reardon,
F. McKenzie,
P. Itin,
2018,
Human mutation.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Marc S. Williams,
J. Shendure,
D. Nickerson,
2014,
American journal of human genetics.
J. Clayton-Smith,
J. Goodship,
H. Stewart,
2008,
American journal of human genetics.
H. Mefford,
J. Graham,
T. Pierson,
2019,
Genetics in Medicine.
Alexander F. Schier,
Rebecca D. Burdine,
Jeffrey A. Towbin,
2000,
Nature Genetics.
C. Saunders,
A. Fry,
V. Faundes,
2021,
Nature Communications.
A. Collins,
R. Newbury-Ecob,
A. Haeringen,
2019,
European Journal of Human Genetics.
S. Annavarapu,
D. Butteriss,
M. Splitt,
2022,
European journal of medical genetics.
R. Newbury-Ecob,
M. Splitt,
A. Weber,
2018,
European Journal of Human Genetics.
A. Brady,
J. Dean,
M. Splitt,
2018,
Clinical genetics.
Juan I. Young,
Rebecca C. Spillmann,
S. Nelson,
2020,
Genetics in Medicine.
J. Raes,
Y. Peer,
Y. van de Peer,
2005,
American journal of human genetics.
D. Wieczorek,
H. Kayserili,
D. Goudie,
2013,
Human Genetics.
Patricia H. Wheeler,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
A. Munnich,
K. Devriendt,
R. Hennekam,
2011,
Journal of Medical Genetics.
Peter J. Scambler,
John Burn,
D I Wilson,
2019,
Pathology of Heart Disease in the Fetus, Infant and Child.
J. Burn,
J. Goodship,
M. Splitt,
1995,
The New England journal of medicine.
T. Montgomery,
M. Splitt,
P. Hodgkinson,
2008,
Journal of plastic, reconstructive & aesthetic surgery : JPRAS.
A. Fenton,
M. Splitt,
N. Banait,
2015,
BMJ Case Reports.
J. Rosenfeld,
P. Stankiewicz,
R. Stevenson,
2021,
American journal of human genetics.
S. Klauck,
A. Poustka,
S. Lindsay,
2002,
American journal of human genetics.
A. Munnich,
H. Kayserili,
A. Verloes,
2018,
European Journal of Human Genetics.
S. Robson,
M. Splitt,
G. Waring,
2018,
Archives of Disease in Childhood.
A. Shaw,
M. Irving,
M. Splitt,
2006,
Clinical dysmorphology.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
J. Goodship,
H. Gill,
M. Splitt,
2000,
American journal of human genetics.
D. Wieczorek,
H. Kayserili,
D. Goudie,
2013,
Human Genetics.
L. Bouneau,
C. Rooryck,
Angèle Tingaud-Sequeira,
2022,
Journal of Medical Genetics.
J. Goodship,
M. Splitt,
C. Wright,
1999,
The Lancet.
M. Irving,
M. Splitt,
R. Roberts,
2003,
Journal of medical genetics.
P. Bolton,
A. Pickles,
S. Baron-Cohen,
2017,
Molecular Autism.
M. Splitt,
N. Rajan,
S. Natarajan,
2015,
Clinical and experimental dermatology.
M. Splitt,
N. Rajan,
S. Natarajan,
2015
.
R. Newbury-Ecob,
M. Splitt,
A. Weber,
2018,
European Journal of Human Genetics.
Saskia M. J. Hopman,
L. Vissers,
R. Pfundt,
2023,
American journal of human genetics.
A. Siddiqui,
N. Dlamini,
M. Splitt,
2009,
American journal of medical genetics. Part A.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
American journal of human genetics.
M. Weedon,
S. Ellard,
M. Wabitsch,
2020,
Wellcome open research.
J. Goodship,
J. Burn,
J. Goodship,
1997,
Heart.
Alcino J. Silva,
R. Emsley,
Jonathan Green,
2018,
Molecular Autism.
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
A. Clarke,
S. Berland,
L. Greenhalgh,
2023,
European Journal of Human Genetics.
R. Forsyth,
M. Splitt,
M. Clarke,
2008,
Clinical dysmorphology.
W. Newman,
S. Huson,
E. Miles,
2016,
EBioMedicine.
W. Reardon,
F. McKenzie,
P. Itin,
2018,
Human mutation.
W. Reardon,
G. Mortier,
O. Klein,
2011,
American journal of medical genetics. Part A.