ProfileOfResearchers

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; 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; ...More
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1

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TITLE: Novel AICDA Mutation In Two Brazilian Sisters With Hiper-IgM Syndrome: Case Report Full Text
AUTHORS: Pastorino, AC; Reis, PH; Stefani, GP; Caratao, N; Jacob, CMA; Barreto, VM; Carneiro Sampaio, M;
PUBLISHED: 2009, SOURCE: 65th Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, VOLUME: 123, ISSUE: 2

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TITLE: Neutropenia in antibody-deficient patients under IVIG replacement therapy Full Text
AUTHORS: Sonia Lemos; Cristina M A Jacob; Antonio C Pastorino; Ana Paula B M Castro; Angela B F Fomin; Magda M S Carneiro Sampaio;
PUBLISHED: 2009, SOURCE: PEDIATRIC ALLERGY AND IMMUNOLOGY, VOLUME: 20, ISSUE: 1

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