M. Whiteford
发表
Jai Radhakrishnan,
Murim Choi,
Robert Bjornson,
2012,
Nature.
Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
I. Temple,
M. Whiteford,
J. Shield,
1997,
Archives of disease in childhood. Fetal and neonatal edition.
Alessandro,
G. J. Swaminathan,
A. Green,
2019
.
G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
A. Hoischen,
B. D. de Vries,
L. S. Lucas,
2013,
Orphanet Journal of Rare Diseases.
M. Whiteford,
2004
.
D. Fitzpatrick,
M. Whiteford,
S. Joss,
2003,
Clinical genetics.
G. Hitman,
K. Minden,
S. McKee,
2011,
Cellular immunology.
B. V. van Bon,
A. Hoischen,
H. Brunner,
2017,
Journal of Medical Genetics.
D. Fitzpatrick,
M. Whiteford,
J. Fantes,
2010,
PloS one.
D. Fitzpatrick,
M. Whiteford,
J. Fantes,
2010
.
E. Zackai,
V. Shashi,
F. Elmslie,
2007,
Human mutation.
N. Burrows,
M. Whiteford,
D. Baker,
2019,
Genetics in Medicine.
J. Tolmie,
M. Whiteford,
G. Lowther,
1995,
Prenatal diagnosis.
W. Reardon,
G. Mortier,
O. Klein,
2011,
American journal of medical genetics. Part A.
S. Knight,
R. Houlston,
J. Hurst,
2010,
American journal of medical genetics. Part A.
A. Hoischen,
L. S. Lucas,
J. Allanson,
2016
.
J. Tolmie,
M. Whiteford,
A. Cooke,
1997,
Journal of medical genetics.
A. Green,
J. Mcgaughran,
M. Whiteford,
2005,
Human mutation.
J. Tolmie,
M. Whiteford,
M. L. Whiteford,
1996,
Journal of medical genetics.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
R. Trembath,
W. Wuyts,
M. Zenker,
2009,
American journal of medical genetics. Part A.
Gabriele Gillessen-Kaesbach,
Dagmar Wieczorek,
Jacek Majewski,
2012,
American journal of human genetics.
M. Whiteford,
J. MacKenzie,
E. Tobias,
2001,
Clinical dysmorphology.
R. Spritz,
E. Legius,
E. Héon,
1998,
American journal of human genetics.
A. Dutra,
L. Biesecker,
A. Slavotinek,
2004,
American journal of medical genetics. Part A.
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
.
M. Hurles,
R. Sandford,
D. Baralle,
2020,
Nature Communications.
Mark T. Handley,
M. Hurles,
D. Grozeva,
2017,
Genetics in Medicine.
Sancha Martin,
E. Tobias,
A. Biankin,
2022,
European Journal of Human 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.
Sahar Mansour,
Dierk Niessing,
James J Dowling,
2017,
Journal of Medical Genetics.
J. Clayton-Smith,
J. Goodship,
H. Stewart,
2008,
American journal of human genetics.
J. Tolmie,
E. Tobias,
M. Whiteford,
1999,
Archives of disease in childhood.
P. Soler-Palacín,
V. Wahn,
H. von Bernuth,
2021,
Journal of Clinical Immunology.
R. Hennekam,
H. Kayserili,
P. Lapunzina,
2018,
European Journal of Human Genetics.
G. Hitman,
J. Yagüe,
K. Minden,
2003,
Arthritis and rheumatism.
Ole Lund,
Lisbeth Tranebjærg,
Maria Bitner-Glindzicz,
2000,
Human Genetics.
M. Whiteford,
T. Johnston,
G. Stewart,
1997,
Prenatal diagnosis.
J. Tolmie,
R. McGowan,
M. Whiteford,
2011,
European journal of medical genetics.
J. Connor,
M. Whiteford,
B. Winchester,
1998,
Journal of Inherited Metabolic Disease.
M. Whiteford,
J. Paton,
J. Paton,
1995,
Thorax.
R. McGowan,
M. Whiteford,
D. Koppel,
2011,
Clinical dysmorphology.
Richard S Houlston,
J. Tolmie,
R. Houlston,
2004,
Nucleic acids research.
M. Whiteford,
S. Kinmond,
H. Davidson,
2000,
Journal of medical genetics.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
M. Whiteford,
J. Paton,
J. Michie,
2022
.
E. Sprecher,
M. Whiteford,
P. Galloway,
2011,
Journal of Bone and Mineral Metabolism.
D. Rubinsztein,
M. Rhodes,
M. Whiteford,
1999,
Neurology.
A. Green,
S. Robertson,
G. Mortier,
2006,
American journal of medical genetics. Part A.
N. Burrows,
M. Whiteford,
D. Baker,
2019,
Genetics in Medicine.
S. Robertson,
K. Devriendt,
G. Scarano,
2012,
Human mutation.
M. Pembrey,
M. Bitner-Glindzicz,
L. Larsen,
2000,
Human Genetics.
J. Tolmie,
M. Whiteford,
D. Koppel,
2003,
Clinical dysmorphology.
A. De Paepe,
M. Whiteford,
P. Coucke,
2015,
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
G. Hitman,
K. Minden,
S. McKee,
2011
.
Godfrey L. Smith,
H. Y. Elder,
J. Pediani,
1994,
Experimental physiology.
A. Hoischen,
L. S. Lucas,
E. Bongers,
2013
.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
American journal of human genetics.
J. Tolmie,
M. Whiteford,
A. Hollman,
2001,
Clinical dysmorphology.
G. Gazdagh,
M. Whiteford,
M. Sangra,
2017,
Clinical dysmorphology.
R. Hennekam,
H. Kayserili,
P. Lapunzina,
2018,
European Journal of Human Genetics.
Ibitoye,
Fitzpatrick,
Connell,
2017,
Genetics in Medicine.
W. Reardon,
F. McKenzie,
P. Itin,
2018,
Human mutation.
W. Reardon,
G. Mortier,
O. Klein,
2011,
American journal of medical genetics. Part A.