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.

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.

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 .

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

W. Reardon, R. Winter, A. Kispert, 2002, Human molecular genetics.

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

P. Turnpenny, J. Dean, S. Glover, 2002, Ophthalmology.

S. Ellard, P. Turnpenny, 2007 .

P. Turnpenny, J. Dean, S. Moore, 2000, Seizure.

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.

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

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, 2008, Advances in experimental medicine and biology.

E. Zackai, K. Kusumi, P. Turnpenny, 2004, Journal of pediatric orthopedics.

D. Sillence, S. Ellard, M. A. Wouters, 2004, American journal of human genetics.

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.

A. V. Vulto-van Silfhout, E. Haan, R. Gibbs, 2013, American 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 .

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.

K. Lachlan, P. Turnpenny, F. V. van Dijk, 2019, American journal of medical genetics. Part A.

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.

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.

Robert W. Taylor, D. Turnbull, U. Pohl, 2012, Brain : a journal of neurology.

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.

B. Alman, P. Giampietro, Olivier Tassy, 2010, American journal of medical genetics. Part A.

S. Dunwoodie, D. Sparrow, G. Chapman, 2007, Birth defects research. Part C, Embryo today : reviews.

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.

R. Płoski, A. Wynshaw-Boris, L. Escobar, 2021, HGG advances.

P. Turnpenny, J. Dean, T. Montgomery, 2000, Journal of medical genetics.

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

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.

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, 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.

P. Turnpenny, A. Childs, D. Mabin, 2020, American journal of medical genetics. Part A.

G. Mirza, J. Ragoussis, F. Speleman, 1999, Human Genetics.

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.

P. Turnpenny, 1995 .

A. Mcwhinnie, P. Turnpenny, S. Simpson, 1993, Archives of disease in childhood.

P. Turnpenny, 1994, Archives of disease in childhood. Fetal and neonatal edition.

Sian Ellard, S. Ellard, P. Turnpenny, 1998 .

P. Turnpenny, J. Dean, D. D. de Silva, 1995, Clinical dysmorphology.

P. Turnpenny, V. Mcconnell, D. Donnelly, 2011, Clinical dysmorphology.

M. Weedon, S. Ellard, N. Sebire, 2017, Journal of the American Society of Nephrology : JASN.

P. Turnpenny, 1992, American journal of medical genetics.

P. Turnpenny, K. Kelly, 1993, Scottish medical journal.

S. Ellard, P. Turnpenny, 2007 .

N. Qutob, E. Baple, A. Crosby, 2021, European Journal of Human Genetics.

S. Robertson, K. Hamandi, A. Fry, 2013, The Journal of neuropsychiatry and clinical neurosciences.

J. Tolmie, P. Turnpenny, R. Davidson, 1993, Clinical dysmorphology.

A. Seller, P. Chinnery, R. Horvath, 2011, Neurology.

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.

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2018, Genetics in Medicine.

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.

P. Turnpenny, A. Quinn, C. Gibbon, 2007, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

S. Ellard, P. Turnpenny, 2007 .

P. Turnpenny, 2016, Cellular and molecular gastroenterology and hepatology.

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.

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 .

P. Turnpenny, E. Weiner, R. Thwaites, 1990, Prenatal diagnosis.

D. Craufurd, A. Clarke, Z. Miedzybrodzka, 2018, Genetics in Medicine.

S. Ellard, P. Turnpenny, 2007 .

Alison M. Male, S. Sisodiya, C. Brownstein, 2022, Neurology.