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Stavit Shalev

Showing results (31-40 of 53) with videos related to

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Harefuah|September 7, 2007
[A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)]Yael Goldberg, Rinnat Porat, Michal Sagi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2009
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panelOrit Reish, Zvi U Borochowitz, Vardit Adir, et al.
Plos Genetics|March 24, 2016
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain SizeRotem Kadir, Tamar Harel, Barak Markus, et al.
Cells|December 24, 2021
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNAJana Key, Sylvia Torres-Odio, Nina C Bach, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
International Journal of Biometeorology|July 1, 2005
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000Eliahu G Stoupel, Helena Frimer, Zvi Appelman, et al.
American Journal of Human Genetics|April 29, 2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisJanna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, et al.
American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Harefuah|September 7, 2007
[A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)]Yael Goldberg, Rinnat Porat, Michal Sagi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2009
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panelOrit Reish, Zvi U Borochowitz, Vardit Adir, et al.
Plos Genetics|March 24, 2016
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain SizeRotem Kadir, Tamar Harel, Barak Markus, et al.
Cells|December 24, 2021
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNAJana Key, Sylvia Torres-Odio, Nina C Bach, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
International Journal of Biometeorology|July 1, 2005
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000Eliahu G Stoupel, Helena Frimer, Zvi Appelman, et al.
American Journal of Human Genetics|April 29, 2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisJanna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, et al.
American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.
Pageof 6