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Reeval Segel

Showing results (11-20 of 54) with videos related to

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American Journal of Human Genetics|August 4, 2009
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 genePaul Renbaum, Efrat Kellerman, Ranit Jaron, et al.
Digestive Diseases and Sciences|January 7, 2014
Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish populationYair Kasirer, Rephael Mevorach, Paul Renbaum, et al.
FEBS Letters|May 26, 2020
Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippaseHaruka Okai, Ryoko Ikema, Hiroki Nakamura, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|February 20, 2018
Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literatureLena Sagi-Dain, Amihood Singer, Yarin Hadid, et al.
Molecular Genetics and Metabolism|April 9, 2011
A safety trial of high dose glyceryl triacetate for Canavan diseaseReeval Segel, Yair Anikster, Shoshana Zevin, et al.
Journal of Assisted Reproduction and Genetics|January 14, 2021
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?Keren Rotshenker-Olshinka, Naama Srebnik Moshe, Omri Weiss, et al.
American Journal of Human Genetics|January 25, 2011
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndromeRuth Belostotsky, Efrat Ben-Shalom, Choni Rinat, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutationsReeval Segel, Shira Silverstein, Israela Lerer, et al.
Journal of Medical Genetics|March 10, 2022
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcomeHagit Daum, Reeval Segel, Vardiella Meiner, et al.
Molecular Genetics and Genomics : MGG|April 29, 2022
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangementsRachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, et al.
Pageof 6

Showing results (11-20 of 54) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|August 4, 2009
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 genePaul Renbaum, Efrat Kellerman, Ranit Jaron, et al.
Digestive Diseases and Sciences|January 7, 2014
Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish populationYair Kasirer, Rephael Mevorach, Paul Renbaum, et al.
FEBS Letters|May 26, 2020
Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippaseHaruka Okai, Ryoko Ikema, Hiroki Nakamura, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|February 20, 2018
Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literatureLena Sagi-Dain, Amihood Singer, Yarin Hadid, et al.
Molecular Genetics and Metabolism|April 9, 2011
A safety trial of high dose glyceryl triacetate for Canavan diseaseReeval Segel, Yair Anikster, Shoshana Zevin, et al.
Journal of Assisted Reproduction and Genetics|January 14, 2021
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?Keren Rotshenker-Olshinka, Naama Srebnik Moshe, Omri Weiss, et al.
American Journal of Human Genetics|January 25, 2011
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndromeRuth Belostotsky, Efrat Ben-Shalom, Choni Rinat, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutationsReeval Segel, Shira Silverstein, Israela Lerer, et al.
Journal of Medical Genetics|March 10, 2022
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcomeHagit Daum, Reeval Segel, Vardiella Meiner, et al.
Molecular Genetics and Genomics : MGG|April 29, 2022
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangementsRachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, et al.
Pageof 6