1
TÍTULO: 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
INDEXADO EM: Scopus WOS CrossRef
2
TÍTULO: Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
AUTORES: Pardeep Kaurah; Andree MacMillan; Niki Boyd; Janine Senz; Alessandro De Luca; Nicki Chun; Gianpaolo Suriano; Sonya Zaor; Lori Van Manen; Cathy Gilpin; Sarah Nikkel; Mary Connolly Wilson; Scott Weissman; Wendy S Rubinstein; Courtney Sebold; Robert Greenstein; Jennifer Stroop; Dwight Yim; Benoit Panzini; Wendy McKinnon; Marc Greenblatt; Debrah Wirtzfeld; Daniel Fontaine; Daniel Coit; Sam Yoon; Daniel Chung; Gregory Lauwers; Antonio Pizzuti; Carlos Vaccaro; Maria Ana Redal; Carla Oliveira; Marc Tischkowitz; Sylviane Olschwang; Steven Gallinger; Henry Lynch; Jane Green; James Ford; Paul Pharoah; Bridget Fernandez; David Huntsman; ...Mais
PUBLICAÇÃO: 2007, FONTE: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, VOLUME: 297, NÚMERO: 21
INDEXADO EM: Scopus WOS CrossRef: 310