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Blood Cells, Molecules & Diseases|September 8, 2009
Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rareShraga Aviner, Ben-Zion Garty, Avinoam Rachmel, et al.
American Journal of Medical Genetics. Part A|May 3, 2014
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndromeIdit Maya, Chana Vinkler, Osnat Konen, et al.
Pediatric Research|January 11, 2018
Microarray analysis in pregnancies with isolated unilateral kidney agenesisLena Sagi-Dain, Idit Maya, Amir Peleg, et al.
Journal of Medical Genetics|May 29, 2007
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and managementWen-Hann Tan, Hagit N Baris, Patricia E Burrows, et al.
The Journal of Obstetrics and Gynaecology Research|March 12, 2014
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher diseaseDeborah Elstein, Derralynn Hughes, Ozlem Goker-Alpan, et al.
Clinical and Translational Gastroenterology|December 15, 2012
Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance ProgramZohar Levi, Hagit N Baris, Inbal Kedar, et al.
European Journal of Medical Genetics|March 30, 2019
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze populationKarin Weiss, Nina Ekhilevitch, Lior Cohen, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Is one diagnosis the whole story? patients with double diagnosesAlina Kurolap, Naama Orenstein, Inbal Kedar, et al.
Journal of Medical Genetics|June 8, 2018
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotypeAlina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndromeVered Shkalim, Hagit N Baris, Gavriel Gal, et al.
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