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TÃTULO: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Full Text
AUTORES: 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; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Heron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Moller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sa; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; Karen K Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott; ...Mais
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1

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TÃTULO: Further clinical and molecular delineation of the 15q24 microdeletion syndrome
AUTORES: 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; Susan Zelewski; Valerie Banks; Wendy Smith; Rosemarie Smith; Lindsay Paull; Kenneth N Rosenbaum; David J Amor; Joao Silva; Allen Lamb; Evan E Eichler; ...Mais
PUBLICAÇÃO: 2012, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, NÚMERO: 2

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