P. Turnpenny
发表
Hagai Bergman,
Dagmar Wieczorek,
Zvi Israel,
2016,
Nature Genetics.
Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
S. Ellard,
P. Turnpenny,
2011,
European Journal of Human Genetics.
Diana S. Johnson,
S. Lynch,
P. Turnpenny,
2021,
American journal of medical genetics. Part A.
D. Fitzpatrick,
M. Lees,
F. Kaiser,
2017,
Epilepsia.
Morad Ansari,
Alejandro Sifrim,
Matthew E Hurles,
2015,
Nature Genetics.
R. Hennekam,
B. Gener,
C. Turnbull,
2020,
Clinical genetics.
P. Turnpenny,
D. Osio,
N. Jain,
2015,
Clinical dysmorphology.
N. Haites,
P. Turnpenny,
J. Dean,
1995,
Journal of medical genetics.
P. Turnpenny,
K. Kelly,
C. Clark,
1994,
Journal of medical genetics.
B. Alman,
O. Pourquié,
P. Giampietro,
2007,
Developmental dynamics : an official publication of the American Association of Anatomists.
D. Sillence,
M. A. Wouters,
S. Dunwoodie,
2010,
European Journal of Human Genetics.
S. Ellard,
P. Turnpenny,
2007
.
Alessandro,
G. J. Swaminathan,
A. Green,
2019
.
G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
W. Reardon,
R. Winter,
A. Kispert,
2002,
Human molecular genetics.
E. Lander,
R. Krumlauf,
T. Frayling,
2000,
Nature Genetics.
James D Stephenson,
Patrick J. Short,
Andrew R. Bassett,
2017,
Science.
James D Stephenson,
Patrick J. Short,
M. Hurles,
2017
.
P. Turnpenny,
J. Dean,
S. Glover,
2002,
Ophthalmology.
N. Haites,
P. Turnpenny,
D. de Silva,
1995,
Journal of medical genetics.
N. Hawkins,
A. Clarke,
P. Turnpenny,
2018,
New Genetics and Society.
S. Ellard,
P. Turnpenny,
2007
.
P. Turnpenny,
J. Dean,
S. Moore,
2000,
Seizure.
S. Ellard,
K. Stals,
P. Turnpenny,
2012,
Clinical genetics.
Shuwen Huang,
J. Crolla,
P. Turnpenny,
2007,
Clinical dysmorphology.
Soo-Mi Park,
H. Firth,
Meredith Wilson,
2012,
American journal of medical genetics. Part A.
D. Sillence,
S. Ellard,
D. Fatkin,
2006,
American journal of human genetics.
N. Rahman,
D. Baralle,
C. Mercer,
2018,
Wellcome open research.
D. Baralle,
J. Clayton-Smith,
C. Ruivenkamp,
2021,
American journal of medical genetics. Part A.
Abdulrahman,
D. Craufurd,
A. Clarke,
2019
.
J. Rankin,
C. Hanemann,
P. Turnpenny,
2013,
American journal of medical genetics. Part A.
P. Turnpenny,
D. Shah,
R. Jones,
1997,
American journal of medical genetics.
A. Clarke,
H. Kayserili,
B. Melegh,
2018,
European Journal of Human Genetics.
J. Rosenfeld,
C. Shaw,
Marilyn C. Jones,
2022,
American journal of medical genetics. Part A.
Alison M. Male,
S. Sisodiya,
C. Brownstein,
2022,
Neurology.
T. Frayling,
A. Hattersley,
S. Ellard,
1999,
American journal of human genetics.
R. Kageyama,
S. Ellard,
S. Dunwoodie,
2013,
American journal of medical genetics. Part A.
P. Turnpenny,
Elizabeth Young,
2013
.
P. Turnpenny,
2010
.
P. Turnpenny,
2008,
Advances in experimental medicine and biology.
P. Turnpenny,
S. Domizio,
A. Saponari,
2007,
Clinical dysmorphology.
E. Zackai,
K. Kusumi,
P. Turnpenny,
2004,
Journal of pediatric orthopedics.
S. Ellard,
C. D. de Die-Smulders,
N. Whittock,
2004,
Clinical genetics.
D. Sillence,
S. Ellard,
M. A. Wouters,
2004,
American journal of human genetics.
S. Ellard,
N. Whittock,
P. Turnpenny,
2003,
Prenatal diagnosis.
P. Turnpenny,
R. Thwaites,
F. Boulos,
1991,
Journal of medical genetics.
Ellard,
M. Weedon,
N. Sebire,
2017
.
D. L. Stevens,
P. Turnpenny,
L. Tyfield,
1999,
Annals of the New York Academy of Sciences.
P. Turnpenny,
S. Nash,
1991,
Archives of emergency medicine.
K. Stals,
P. Turnpenny,
Lettie E Rawlins,
2017,
Clinical dysmorphology.
A. V. Vulto-van Silfhout,
E. Haan,
R. Gibbs,
2013,
American journal of human genetics.
S. Mehta,
S. Mansour,
I. Temple,
2010,
European Journal of Human Genetics.
J. Tolmie,
D. Wieczorek,
J. Goodship,
2011,
European Journal of Human Genetics.
S. Mehta,
E. Tobias,
R. Newbury-Ecob,
2019,
European journal of medical genetics.
H. Cordell,
J. Goodship,
B. Shields,
2014,
Journal of Medical Genetics.
A. Hattersley,
S. Ellard,
P. Turnpenny,
2006,
Thyroid : official journal of the American Thyroid Association.
J. Clayton-Smith,
M. Irving,
S. Holder,
2016,
American Journal of Medical Genetics. Part A.
S. Ellard,
P. Turnpenny,
2007
.
N. Hawkins,
A. Clarke,
H. Kayserili,
2018
.
A. Clarke,
P. Turnpenny,
Sandi Dheensa,
2017,
European Journal of Human Genetics.
A. Clarke,
P. Turnpenny,
Sandi Dheensa,
2017,
European Journal of Human Genetics.
A. Fry,
K. Lachlan,
R. Newbury-Ecob,
2020,
American journal of medical genetics. Part A.
J. Clayton-Smith,
M. Irving,
S. Holder,
2018
.
K. Lachlan,
P. Turnpenny,
F. V. van Dijk,
2019,
American journal of medical genetics. Part A.
A. Hattersley,
S. Ellard,
C. Shaw-Smith,
2016,
Kidney international.
J. Lupski,
W. Dobyns,
D. Curiel,
2022,
American journal of human genetics.
P. Turnpenny,
R. Spicer,
M. Gopal,
2007,
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.
P. Turnpenny,
P. Bingham,
S. Stahl,
1992,
European Journal of Pediatrics.
P. Turnpenny,
2010
.
B. Alman,
O. Pourquié,
P. Giampietro,
2009,
Annals of the New York Academy of Sciences.
K. Kusumi,
P. Turnpenny,
2007,
The Journal of bone and joint surgery. American volume.
P. Turnpenny,
J. Dean,
I. Auchterlonie,
1992,
Journal of medical genetics.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Robert W. Taylor,
D. Turnbull,
U. Pohl,
2012,
Brain : a journal of neurology.
R. Thakker,
P. Turnpenny,
P. Christie,
2010,
Human mutation.
J. Goodship,
Y. Pirson,
P. Turnpenny,
1998,
Kidney international.
J. Little,
D. Shaw,
P. Turnpenny,
2007,
American journal of medical genetics. Part A.
J. Little,
P. Turnpenny,
J. Dean,
2002,
Journal of medical genetics.
P. Turnpenny,
J. Dean,
A D Rasalam,
2005,
Developmental medicine and child neurology.
P. Turnpenny,
J. Dean,
T. Montgomery,
2000
.
E. Haan,
D. Baralle,
D. Evans,
2007,
American journal of human genetics.
R. Pfundt,
A. Hamosh,
M. Broly,
2020,
Genetics in Medicine.
G. Cooper,
M. Williamson,
A. McNeill,
2017,
PLoS Genetics.
P. Turnpenny,
2018
.
P. Turnpenny,
2015
.
B. Alman,
P. Giampietro,
Olivier Tassy,
2010,
American journal of medical genetics. Part A.
S. Ellard,
S. Dunwoodie,
N. Whittock,
2003,
Journal of medical genetics.
P. Turnpenny,
R. Thwaites,
F. Boulos,
2022
.
S. Dunwoodie,
D. Sparrow,
G. Chapman,
2007,
Birth defects research. Part C, Embryo today : reviews.
P. Turnpenny,
2014
.
O. Pourquié,
S. Ellard,
K. Staehling-Hampton,
2008,
American journal of human genetics.
B. Alman,
O. Pourquié,
P. Giampietro,
2008,
Expert opinion on medical diagnostics.
Diana Baralle,
David Hunt,
Peter D Turnpenny,
2014,
Journal of Medical Genetics.
R. Płoski,
A. Wynshaw-Boris,
L. Escobar,
2021,
HGG advances.
W. Berdon,
P. Turnpenny,
M. Vitale,
2011,
Pediatric Radiology.
P. Turnpenny,
J. Dean,
T. Montgomery,
2000,
Journal of medical genetics.
N. Rahman,
D. Gisselsson,
J. Clayton-Smith,
2011,
Nature Genetics.
E. Baple,
A. Crosby,
T. Warner,
2021,
Brain sciences.
M. Pembrey,
M. Bitner-Glindzicz,
F. Cremers,
1995,
Human molecular genetics.
Ivan K. Chinn,
R. Pfundt,
B. D. de Vries,
2021,
Genetics in Medicine.
J. Hehir-Kwa,
B. D. de Vries,
D. Baralle,
2020,
American journal of human genetics.
A. Pagnamenta,
Matteo P. Ferla,
Jenny C. Taylor,
2019,
Clinical genetics.
E. Haan,
S. Mansour,
D. Vidaud,
2021,
European Journal of Human Genetics.
P. Turnpenny,
R. Thwaites,
1992,
American journal of medical genetics.
S. Smithson,
P. Turnpenny,
S. Joss,
2009,
American journal of medical genetics. Part A.
S. Ellard,
P. Turnpenny,
2007
.
D. Fitzpatrick,
R. C. Rogers,
P. Turnpenny,
2006,
Human molecular genetics.
J. Carpten,
E. Gillanders,
J. Trent,
2002,
Nature Genetics.
P. Turnpenny,
Ron Smith,
2003,
Nature Reviews Genetics.
P. Turnpenny,
A. Nimmo,
1993
.
R. Pfundt,
W. Chung,
B. Gener,
2018,
American journal of human genetics.
P. Turnpenny,
A. Nimmo,
1993,
British journal of obstetrics and gynaecology.
P. Turnpenny,
H. Farrimond,
S. Kelly,
2016,
Sociology of health & illness.
A. Karmiloff-Smith,
A. Senju,
F. Happé,
2012,
Front. Psychology.
S. Ellard,
H. Lango Allen,
K. Stals,
2014,
European Journal of Human Genetics.
S. Ellard,
J. Baptista,
H. Lango Allen,
2017,
Prenatal diagnosis.
N. Hawkins,
A. Clarke,
H. Kayserili,
2018
.
P. Turnpenny,
A. Childs,
D. Mabin,
2020,
American journal of medical genetics. Part A.
G. Mirza,
J. Ragoussis,
F. Speleman,
1999,
Human Genetics.
Meghan C Towne,
Carol J. Saunders,
B. V. van Bon,
2021,
American journal of human genetics.
S. Uhrig,
T. Bast,
P. Turnpenny,
2018,
Annals of neurology.
S. Knight,
A. Nordgren,
S. Price,
2013,
European Journal of Human Genetics.
M. Irving,
H. Hanson,
P. Turnpenny,
2003,
American journal of medical genetics. Part A.
J. Reid,
P. Turnpenny,
J. Dean,
1992,
Journal of medical genetics.
P. Turnpenny,
1995
.
A. Mcwhinnie,
P. Turnpenny,
S. Simpson,
1993,
Archives of disease in childhood.
J. Gécz,
W. Chung,
H. Hakonarson,
2021,
American journal of human genetics.
Robert W. Taylor,
W. Chung,
A. Borczuk,
2018,
American journal of human genetics.
M. Weedon,
A. Hattersley,
K. Kos,
2013,
Nature Genetics.
P. Turnpenny,
1994,
Archives of disease in childhood. Fetal and neonatal edition.
Robert W. Taylor,
D. Turnbull,
U. Pohl,
2012
.
Sian Ellard,
S. Ellard,
P. Turnpenny,
1998
.
P. Turnpenny,
J. Dean,
D. D. de Silva,
1995,
Clinical dysmorphology.
Richard Caswell,
Sian Ellard,
Peter D Turnpenny,
2014,
Journal of Medical Genetics.
P. Turnpenny,
V. Mcconnell,
D. Donnelly,
2011,
Clinical dysmorphology.
M. Weedon,
S. Ellard,
N. Sebire,
2017
.
M. Weedon,
S. Ellard,
N. Sebire,
2017,
Journal of the American Society of Nephrology : JASN.
J. Clayton-Smith,
A. Wood,
R. Bromley,
2019,
Orphanet Journal of Rare Diseases.
P. Turnpenny,
1992,
American journal of medical genetics.
P. Turnpenny,
K. Kelly,
1993,
Scottish medical journal.
S. Ellard,
P. Turnpenny,
2007
.
B. Klink,
C. Bénéteau,
J. Thevenon,
2022,
Clinical genetics.
N. Qutob,
E. Baple,
A. Crosby,
2021,
European Journal of Human Genetics.
E. Zackai,
E. Roeder,
J. Clayton-Smith,
2019,
Genetics in Medicine.
D. Grozeva,
H. Bergman,
D. Arkadir,
2017,
Nature Genetics.
S. Robertson,
K. Hamandi,
A. Fry,
2013,
The Journal of neuropsychiatry and clinical neurosciences.
J. Tolmie,
P. Turnpenny,
R. Davidson,
1993,
Clinical dysmorphology.
B. Alman,
O. Pourquié,
P. Giampietro,
2018,
American journal of medical genetics. Part A.
A. Seller,
P. Chinnery,
R. Horvath,
2011,
Neurology.
J. Little,
D. Shaw,
P. Turnpenny,
2008,
Seizure.
P. Turnpenny,
F. Boulos,
R. Dakwar,
1990,
Journal of medical genetics.
A. Clarke,
H. Kayserili,
B. Melegh,
2018,
European Journal of Human Genetics.
N. Hawkins,
A. Clarke,
H. Kayserili,
2018,
European Journal of Human Genetics.
A. Clarke,
P. Turnpenny,
Sandi Dheensa,
2017,
European Journal of Human Genetics.
D. Craufurd,
A. Clarke,
Z. Miedzybrodzka,
2018,
Genetics in Medicine.
Abdulrahman,
D. Craufurd,
A. Clarke,
2019
.
P. Turnpenny,
M. Croft,
2008,
Clinical dysmorphology.
R. Pfundt,
W. Chung,
B. Gener,
2018,
American journal of human genetics.
P. Turnpenny,
J. Dean,
S. Moore,
1999,
Clinical genetics.
Susan Kelly,
Anneke Lucassen,
A. Clarke,
2017,
European journal of medical genetics.
A. Clarke,
P. Turnpenny,
Sandi Dheensa,
2016,
Genetics in Medicine.
A. Karmiloff-Smith,
M. Tassabehji,
E. Meaburn,
2014,
Journal of Neurodevelopmental Disorders.
S. Ellard,
Z. Gucev,
V. Tasic,
2010,
American journal of medical genetics. Part A.
P. Turnpenny,
A. Quinn,
C. Gibbon,
2007,
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
N. Rahman,
D. Baralle,
C. Mercer,
2018,
Wellcome open research.
S. Ellard,
P. Turnpenny,
2007
.
P. Turnpenny,
2016,
Cellular and molecular gastroenterology and hepatology.
D. Grozeva,
H. Bergman,
D. Arkadir,
2016,
Nature Genetics.
D. Gisselsson,
S. Hanks,
Elise Ruark,
2011,
Nature Genetics.
G. Sandini,
V. Mootha,
S. Corti,
2009
.
P. Schlattmann,
K. Kaila,
F. Alkuraya,
2023,
Brain : a journal of neurology.
V. Mootha,
S. Corti,
B. Zörner,
2012,
Brain : a journal of neurology.
G. Sandini,
V. Mootha,
S. Corti,
2022
.
V. Mootha,
S. Corti,
B. Zörner,
2012,
Brain : a journal of neurology.
G. Sandini,
V. Mootha,
S. Corti,
2009,
Brain : a journal of neurology.
J. Clayton-Smith,
M. Irving,
S. Holder,
2016,
American journal of medical genetics. Part A.
S. Ellard,
P. Turnpenny,
2007
.
E. Zackai,
E. Roeder,
J. Clayton-Smith,
2019,
Genetics in Medicine.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2016,
bioRxiv.
P. Turnpenny,
E. Weiner,
R. Thwaites,
1990,
Prenatal diagnosis.
D. Grozeva,
H. Bergman,
D. Arkadir,
2017
.
D. Craufurd,
A. Clarke,
Z. Miedzybrodzka,
2018,
Genetics in Medicine.
S. Ellard,
P. Turnpenny,
2007
.
R. Pfundt,
B. Gener,
D. Pilz,
2018,
American journal of human genetics.
Alison M. Male,
S. Sisodiya,
C. Brownstein,
2022,
Neurology.