L. Brueton
发表
L. Lingappa,
M. Ognjanović,
R. Kleta,
2011,
Nephron Physiology.
Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
W. Reardon,
S. Bowdin,
L. Brueton,
2006,
Human reproduction.
Luminita Moruz,
Andreas Dufke,
Olaf Riess,
2009,
Human mutation.
G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
J. Tolmie,
E. Tobias,
B. Gener,
2010,
Human mutation.
S. O’Rahilly,
A. Krook,
L. Brueton,
1993,
The Lancet.
F. Speleman,
R. Winter,
K. Chotai,
1994,
American journal of medical genetics.
J. Gécz,
J. Morton,
T. Fullston,
2010,
European Journal of Human Genetics.
J. Tolmie,
R. Winter,
D. Higgs,
2001,
Human molecular genetics.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
Michelle S. Miller,
G. Mortier,
M. Simpson,
2014,
European Journal of Human Genetics.
B. Horsthemke,
L. Brueton,
P. Kroisel,
2000,
Clinical genetics.
K. Murphy,
L. Brueton,
C. Sewry,
1999,
American journal of medical genetics.
K. Bushby,
F. Muntoni,
F. Geranmayeh,
2010,
Neuromuscular Disorders.
S. O’Rahilly,
A. Krook,
L. Brueton,
1995,
Prenatal diagnosis.
W. Reik,
S. Bowdin,
E. Blair,
2008,
Human reproduction.
W. Reardon,
S. Bowdin,
L. Brueton,
2007
.
R. Touraine,
S. Holder,
J. Fryns,
2011,
Journal of Medical Genetics.
P. Scambler,
R. Hennekam,
L. Holmes,
2000,
American journal of human genetics.
J. Clayton-Smith,
L. Kearney,
A. Wilkie,
1995
.
Hanlin Gao,
L. Brueton,
A. Chakrapani,
2006,
American journal of medical genetics. Part A.
J. Burn,
L. Brueton,
E. Gatto,
1995,
American journal of human genetics.
L. Brueton,
A. Brady,
A. Brady,
2000,
Clinical genetics.
L. Brueton,
H. Cox,
D. McMullan,
2012,
European Journal of Human Genetics.
P. Scambler,
R. Hennekam,
L. Holmes,
2017
.
L. Brueton,
S. Grabczynska,
N. Francis,
2004,
Journal of the American Academy of Dermatology.
Colin A. Johnson,
J. Tolmie,
H. Brunner,
2006,
American journal of human genetics.
J. Weissenbach,
W. Reardon,
R. Winter,
1994,
American journal of human genetics.
S. Mundlos,
H. Brunner,
C. Ott,
2010,
Human mutation.
A. Vincent,
L. Brueton,
S. Riemersma,
1994,
Journal of Neuroimmunology.
R. Hennekam,
J. Clayton-Smith,
H. Brunner,
1997,
Clinical dysmorphology.
E. Zackai,
L. Biesecker,
J. Graham,
2005
.
A. Reeve,
H. Kingston,
L. Brueton,
1992,
American journal of medical genetics.
R. Gibson,
L. Brueton,
N. Morgan,
1997,
American journal of medical genetics.
D. Horn,
D. Wieczorek,
F. Degenhardt,
2013,
Journal of Medical Genetics.
W. Reik,
S. Bowdin,
J. Sampson,
2003,
Journal of medical genetics.
W. Reardon,
S. Bowdin,
L. Brueton,
2008,
Irish journal of medical science.
John H Livingston,
Roberta Battini,
Ivana Olivieri,
2012,
Nature Genetics.
Jonathan C. Fuller,
D. Bonthron,
E. Bertini,
2009,
Nature Genetics.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
W. Reardon,
R. Winter,
S. Malcolm,
1996,
European journal of human genetics : EJHG.
L. Brueton,
S. Mckaig,
K. Ong,
2006,
European Journal of Medical Genetics.
S. Huson,
A. Vincent,
D. Beeson,
1995,
The Lancet.
S. Huson,
L. Brueton,
D. Hilton‐Jones,
1995,
Neuromuscular Disorders.
A. Green,
P. Scambler,
E. Hatchwell,
1997,
Journal of medical genetics.
M. Savage,
L. Brueton,
J. Harper,
1987,
British medical journal.
L. Brueton,
C. Sewry,
P. Cox,
2003,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
Sven Kreiborg,
Pekka Nieminen,
S. Kreiborg,
2011,
American journal of human genetics.
L. Brueton,
D. Lim,
D. McMullan,
2014,
American journal of medical genetics. Part A.
J. Clayton-Smith,
L. Kearney,
J. Burn,
1995,
American journal of medical genetics.
J. Rosenfeld,
B. V. van Bon,
M. Fichera,
2011,
American journal of human genetics.
H. Mefford,
A. Fry,
D. Pilz,
2018,
Brain : a journal of neurology.
S. Mundlos,
J. Mulliken,
A. Aylsworth,
1999,
American journal of human genetics.
A. V. Vulto-van Silfhout,
A. Hoischen,
D. Horn,
2013,
Human mutation.
R. Trembath,
S. Aftimos,
R. Thakker,
2002,
American journal of medical genetics.
R. Hennekam,
N. S. Thomas,
C. Eng,
2004,
Journal of Medical Genetics.
R. Hennekam,
N. S. Thomas,
C. Eng,
2004
.
L. Brueton,
J. Vogt,
S. Hill,
2006,
European journal of medical genetics.
J. Gécz,
N. Brunetti‐Pierri,
B. Kamien,
2015,
European Journal of Human Genetics.
J. Opitz,
R. Winter,
S. Huson,
1988,
American journal of medical genetics.
R. Pfundt,
M. Fichera,
C. Romano,
2010,
European Journal of Human Genetics.
R. Winter,
L. Brueton,
E. Watson,
1990,
The Lancet.
W. Reardon,
J. Clayton-Smith,
S. Bowdin,
2006,
Human reproduction.
E. Zackai,
A. Guttmacher,
M. Bamshad,
2005,
American journal of human genetics.
R. Winter,
K. Chotai,
L. Brueton,
1992,
Journal of medical genetics.
R. Winter,
K. Chotai,
L. Brueton,
1992,
Journal of medical genetics.
R. Winter,
K. Chotai,
L. Brueton,
1992
.
B. V. van Bon,
M. Fichera,
B. D. de Vries,
2009,
European journal of medical genetics.
L. Brueton,
A. Brady,
M. Suri,
2009,
Clinical dysmorphology.
R. Pfundt,
M. Fichera,
C. Romano,
2010,
European Journal of Human Genetics.
R. Pfundt,
H. Brunner,
H. Bokhoven,
2009,
Journal of Medical Genetics.
R. Winter,
A. Verloes,
M. Dixon,
1997,
Human molecular genetics.
P. Scambler,
M. Vogel,
E. Blair,
2012,
Journal of Medical Genetics.
R. Winter,
L. Brueton,
1990,
Journal of medical genetics.
R. Winter,
L. Brueton,
M. Dillon,
1990,
Journal of medical genetics.
E. Zackai,
M. Muenke,
D. Gasser,
1995,
American journal of human genetics.
R. Winter,
S. Huson,
L. Brueton,
1990,
Journal of medical genetics.
L. Brueton,
E. Wassmer,
R. Quinlivan,
2011,
Developmental medicine and child neurology.
W. Reardon,
L. Brueton,
M. Tischkowitz,
2006,
Clinical dysmorphology.
J. Barber,
R. Winter,
S. Huson,
1989,
Journal of medical genetics.
J. Gécz,
G. Baynam,
C. Shoubridge,
2011,
Clinical genetics.
R. Pfundt,
M. Fichera,
C. Romano,
2010,
European Journal of Human Genetics.
S. Huson,
J. Newsom-Davis,
L. Brueton,
2000,
American journal of medical genetics.
R. Trembath,
M. Kurian,
M. S. van der Knaap,
2011,
Molecular genetics and metabolism.
M. Savage,
L. Brueton,
B. Ansell,
1989,
Journal of the Royal Society of Medicine.
D. Halley,
B. Chang,
L. Brueton,
2011,
Pediatric neurology.
I. Katona,
U. Suter,
M. Shy,
2011,
Archives of neurology.
Jun Yu Li,
U. Suter,
M. Reilly,
2013
.
L. Brueton,
M. Suri,
N. Venkatraman,
2000,
Clinical dysmorphology.
W. Reik,
S. Bowdin,
J. Sampson,
2003,
Journal of medical genetics.
L. Brueton,
A. Lahiri,
A. Kansal,
2007,
Journal of Plastic, Reconstructive & Aesthetic Surgery.
J. Gécz,
G. Baynam,
C. Shoubridge,
2011,
Clinical genetics.
K. Bushby,
F. Muntoni,
F. Geranmayeh,
2010,
Neuromuscular Disorders.
L. Brueton,
K. Gregory-Evans,
J. Brookes,
2002,
Investigative ophthalmology & visual science.
R. Winter,
L. Brueton,
M. Dillon,
1990,
Journal of medical genetics.
L. Brueton,
R. M. Winter,
1990,
Journal of medical genetics.
W. Reik,
S. Bowdin,
E. Blair,
2008,
Human reproduction.