Sarah M. Nikkel
AuthID: R-00F-K6P
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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: Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
AUTHORS: 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; ...More
PUBLISHED: 2007, SOURCE: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, VOLUME: 297, ISSUE: 21
AUTHORS: 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; ...More
PUBLISHED: 2007, SOURCE: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, VOLUME: 297, ISSUE: 21