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Lior Cohen

Showing results (61-70 of 76) with videos related to

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Harefuah|May 29, 2017
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE]Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, 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.
BMC Biology|July 12, 2022
TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autismShai Netser, Guy Nahardiya, Gili Weiss-Dicker, et al.
Human Mutation|February 4, 2015
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasiaEyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, et al.
European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Molecular Metabolism|May 23, 2018
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disabilityLouise Montagne, Mehdi Derhourhi, Amélie Piton, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Harefuah|May 29, 2017
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE]Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, 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.
BMC Biology|July 12, 2022
TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autismShai Netser, Guy Nahardiya, Gili Weiss-Dicker, et al.
Human Mutation|February 4, 2015
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasiaEyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, et al.
European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
Brain : a Journal of Neurology|September 11, 2019
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizuresSusanne Horn, Margaret Au, Lina Basel-Salmon, et al.
Molecular Metabolism|May 23, 2018
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disabilityLouise Montagne, Mehdi Derhourhi, Amélie Piton, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Pageof 8