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Shay Ben-Shachar

Showing results (71-80 of 96) with videos related to

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Seminars in Pediatric Neurology|December 1, 2022
The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future PerspectivesMoran Hausman-Kedem, Rachelle Herring, Marcela D Torres, et al.
Obstetrics and Gynecology|November 7, 2018
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic AnomaliesLena Sagi-Dain, Idit Maya, Adi Reches, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
American Journal of Human Genetics|February 18, 2014
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplicationPengfei Liu, Violet Gelowani, Feng Zhang, et al.
American Journal of Human Genetics|January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.
International Journal of Molecular Sciences|July 12, 2025
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCsMahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
European Journal of Cancer (Oxford, England : 1990)|January 21, 2014
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortiumDoua Bakry, Melyssa Aronson, Carol Durno, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|July 7, 2020
Early Indolent Course of Crohn's Disease in Newly Diagnosed Patients Is Not Rare and Possibly PredictableHenit Yanai, Idan Goren, Lihi Godny, et al.
Parkinsonism & Related Disorders|March 31, 2015
Genetic markers of Restless Legs Syndrome in Parkinson diseaseZiv Gan-Or, Roy N Alcalay, Anat Bar-Shira, et al.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
Seminars in Pediatric Neurology|December 1, 2022
The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future PerspectivesMoran Hausman-Kedem, Rachelle Herring, Marcela D Torres, et al.
Obstetrics and Gynecology|November 7, 2018
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic AnomaliesLena Sagi-Dain, Idit Maya, Adi Reches, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
American Journal of Human Genetics|February 18, 2014
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplicationPengfei Liu, Violet Gelowani, Feng Zhang, et al.
American Journal of Human Genetics|January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.
International Journal of Molecular Sciences|July 12, 2025
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCsMahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
European Journal of Cancer (Oxford, England : 1990)|January 21, 2014
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortiumDoua Bakry, Melyssa Aronson, Carol Durno, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|July 7, 2020
Early Indolent Course of Crohn's Disease in Newly Diagnosed Patients Is Not Rare and Possibly PredictableHenit Yanai, Idan Goren, Lihi Godny, et al.
Parkinsonism & Related Disorders|March 31, 2015
Genetic markers of Restless Legs Syndrome in Parkinson diseaseZiv Gan-Or, Roy N Alcalay, Anat Bar-Shira, et al.
Pageof 10