Joyce T. Turner

National Institutes of Health, National Human Genome Research Institute, Building 49, Room 4A80, 31 Center Drive, Bethesda, MD 20892, USA; and Dalhousie University, Halifax, Nova Scotia, Canada

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Papers11 papers

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J Johnston,Julie C Sapp,Joyce T Turner,David J Amor,Salim Aftimos,Kyrieckos A Aleck,Maureen Bocian,Joann N Bodurtha,Gerald F Cox,Cynthia J Curry,Ruth Day, Dian Donnai

Human mutation, no. 10 (2010): 1142-1154

Cited by62WOSBibtex

Newly delineated syndrome ofcongenitallipomatousovergrowth,vascular malformations, andepidermal nevi (CLOVE syndrome) in seven patients

Julie C. Sapp,Joyce T. Turner,Jiddeke M. van de Kamp,Fleur S. van Dijk,R. Brian Lowry,Leslie G. Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 24 (2007): 2944-2958

Cited by3Bibtex

Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma

Joyce Turner,Barbara Biesecker,Jennifer Leib,Leslie Biesecker,Kathryn F Peters

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 18 (2007): 2089-2097

Cited by16WOSBibtex

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Jennifer J Johnston,Isabelle Olivos-Glander,Christina Killoran,Emma Elson,Joyce T Turner,Kathryn F Peters,Margaret H Abbott,David J Aughton,Arthur S Aylsworth,Michael J Bamshad,Carol Booth,Cynthia J Curry

AMERICAN JOURNAL OF HUMAN GENETICS, no. 4 (2005): 609-622

Cited by211WOSEIBibtex

Gonadal mosaicism in severe Pallister-Hall syndrome (Am J Med Genet 124A: 296-302 (2004)

David Ng,Jennifer J. Johnston,Joyce T. Turner,Eilis A. Boudreau,Edythe A. Wiggs,William H. Theodore,Leslie G. Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 2 (2005): 225-225

Bibtex

Gonadal mosaicism in severe Pallister-Hall syndrome

David Ng,Jennifer J Johnston,Joyce T Turner,Eilis A Boudreau,Edythe A Wiggs,William H Theodore,Leslie G Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 3 (2004): 296-302

Cited by5WOSBibtex

Reply to Kirk et al

M. Michael Cohen,Joyce T. Turner,Leslie G. Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 2 (2004): 216-217

Cited by5Bibtex

Cutaneous manifestations of proteus syndrome: correlations with general clinical severity

Diem Nguyen,Joyce T Turner,Cara Olsen,Leslie G Biesecker,Thomas N Darling

Archives of dermatology, no. 8 (2004): 947-953

Cited by37WOSBibtex

Proteus syndrome: Misdiagnosis withPTEN mutations

M. Michael Cohen,,Joyce T. Turner,Leslie G. Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 4 (2003): 323-324

Cited by8Bibtex

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Jennifer J Johnston,Isabelle Olivos-Glander,Joyce Turner,Kyrieckos Aleck,Lynne M Bird,Lakshmi Mehta,R Neil Schimke,Heidi Heilstedt,J Edward Spence,Jan Blancato,Leslie G Biesecker

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no. 3 (2003): 236-242

Cited by37WOSBibtex

PTEN mutations and Proteus syndrome

Leslie G Biesecker,Marjorie J Rosenberg,Scott Vacha,Joyce T Turner,M Micheal Cohen

Lancet (London, England), no. 9298 (2001): 2079-2080

Cited by38EIWOSBibtex

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