Anne M. Slavotinek
AuthID: R-00F-JAG
1
TITLE: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Full Text
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
AUTHORS: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
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TITLE: Further clinical and molecular delineation of the 15q24 microdeletion syndrome
AUTHORS: Heather C Mefford; Jill A Rosenfeld; Natasha Shur; Anne M Slavotinek; Victoria A Cox; Raoul C Hennekam; Helen V Firth; Lionel Willatt; Patricia Wheeler; Eric M Morrow; Joseph Cook; Rachel Sullivan; Albert Oh; Marie T McDonald; Jonathan Zonana; Kory Keller; Mark C Hannibal; Susie Ball; Jennifer Kussmann; Jerome Gorski; ...More
PUBLISHED: 2012, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, ISSUE: 2
AUTHORS: Heather C Mefford; Jill A Rosenfeld; Natasha Shur; Anne M Slavotinek; Victoria A Cox; Raoul C Hennekam; Helen V Firth; Lionel Willatt; Patricia Wheeler; Eric M Morrow; Joseph Cook; Rachel Sullivan; Albert Oh; Marie T McDonald; Jonathan Zonana; Kory Keller; Mark C Hannibal; Susie Ball; Jennifer Kussmann; Jerome Gorski; ...More
PUBLISHED: 2012, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, ISSUE: 2