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Kabuki syndrome / Potocki-Shaffer syndrome / Marshall–Smith syndrome / Syndromes / Health / Cornelia de Lange Syndrome


Top 10 Genetics Resources for Pediatric Primary Care Providers Beth A. Pletcher, MD, FAAP, FACMG Associate Professor of Pediatrics UMDNJ – New Jersey Medical School
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Document Date: 2013-03-12 11:55:39

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File Size: 2,67 MB

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Company

eMedicine / Top 10 Genetics Resources / AAP / Top Ten Resources / /

Facility

University Hospital Bioethics Committee / University of Medicine / Johns Hopkins University / The Neurofibromatosis Center / /

IndustryTerm

rare chromosome / Online Mendelian Inheritance / Online Access / /

MedicalCondition

CHROMOSOME 15q24 DELETION SYNDROME / CUTIS LAXA / Microcephaly / CHROMOSOME 1q41-q42 DELETION SYNDROME / MARDEN-WALKER SYNDROME / KABUKI SYNDROME / C SYNDROME / genetic disorder / BOHRING-OPITZ SYNDROME / Diaphragmatic hernia / FOCAL DERMAL HYPOPLASIA / RHIZOMELIC CHONDRODYSPLASIA PUNCTATA / DELETION SYNDROME / CORNELIA DE LANGE SYNDROME / BLEPHAROPHIMOSIS / birth defect / COFFIN-SIRIS SYNDROME / WOLF-HIRSCHHORN SYNDROME / EMANUEL SYNDROME / PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS / /

Organization

National Center for Biotechnology Information / Neurofibromatosis Center of New Jersey / Genetic Alliance / National Organization of Rare Disorders / American Academy / Johns Hopkins University / Primary Care Institute Faculty / University of Medicine and Dentistry / New Jersey Medical School / Pediatrics Committee of Pediatric Workforce / University Hospital Bioethics Committee / /

Person

CORNELIA DE LANGE / Beth A Pletcher / Beth A. Pletcher / Gene Reviews / Gene Tests / /

Position

Professor of Pediatrics / Director / Professor of Pediatrics UMDNJ / Chair / Associate Professor / /

ProvinceOrState

New Jersey / /

Technology

Biotechnology / /

URL

www.kumc.edu/gec / www.geneclinics / http /

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