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Ilana Chervinsky
Ilana Chervinsky
Emek Medical Center
Mutation
Biology
Genetics
Dominance (genetics)
Exome sequencing
5
Papers
57
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A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels
2017
Metabolic Brain Disease
Yoav Zehavi
Anja von Renesse
Etty Daniel-Spiegel
Yonatan Sapir
Luci Zalman
Ilana Chervinsky
Markus Schuelke
Rachel Straussberg
Ronen Spiegel
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Citations (7)
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
2016
American Journal of Medical Genetics Part A
Morad Khayat
Joseph Mark Tilghman
Ilana Chervinsky
Lucia Zalman
Aravinda Chakravarti
Stavit A. Shalev
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Citations (21)
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
2015
Neuromuscular Disorders
Sharon Aharoni
Menachem Sadeh
Yehuda Shapira
Simon Edvardson
Muhannad Daana
Talia Dor-Wollman
Aviva Mimouni-Bloch
Ayelet Halevy
Rony Cohen
Liora Sagie
Zohar Argov
Malcolm Rabie
Ronen Spiegel
Ilana Chervinsky
Naama Orenstein
Andrew G. Engel
Yoram Nevo
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Citations (20)
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
2014
European Journal of Medical Genetics
Hanna Mandel
Ksenya Cohen Katsanelson
Morad Khayat
Ilana Chervinsky
Eugene Vladovski
Theodor C. Iancu
Margarita Indelman
Yoseph Horovitz
Eli Sprecher
Stavit A. Shalev
Ronen Spiegel
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Citations (9)
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities
2009
American Journal of Medical Genetics Part A
Ronen Spiegel
Yoseph Horovitz
Hartmut Peters
Fikret Erdogan
Ilana Chervinsky
Stavit A. Shalev
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