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Dorit Lev

Showing results (141-150 of 176) with videos related to

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American Journal of Medical Genetics. Part A|September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli populationMordechai Shohat, Helena Frimer, Vered Shohat-Levy, et al.
Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophySahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Pageof 18

Showing results (141-150 of 176) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli populationMordechai Shohat, Helena Frimer, Vered Shohat-Levy, et al.
Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophySahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Pageof 18