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Stavit Shalev

Showing results (11-20 of 53) with videos related to

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American Journal of Medical Genetics. Part A|September 25, 2014
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variabilityMoran Gal, Erez Y Levanon, Yasir Hujeirat, et al.
European Journal of Endocrinology|March 29, 2017
A homozygous mutation of <i>GNRHR</i> in a familial case diagnosed with polycystic ovary syndromeSandrine Caburet, Ronit Beck Fruchter, Bérangère Legois, et al.
Pediatric Blood & Cancer|May 8, 2013
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance patternCarina Levin, Lucia Zalman, Hannah Tamary, et al.
Pediatric Hematology and Oncology|March 15, 2003
Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factorAriel Koren, Carina Levin, Yaser Hujirat, et al.
Mediterranean Journal of Hematology and Infectious Diseases|March 29, 2014
Prevention of β Thalassemia in Northern Israel - a Cost-Benefit AnalysisAriel Koren, Lora Profeta, Luci Zalman, et al.
Molecular Genetics and Metabolism|March 19, 2005
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humansRonen Spiegel, Gideon Bach, Vivi Sury, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3Siddharth Banka, Elena Chervinsky, William G Newman, et al.
The Israel Medical Association Journal : IMAJ|July 17, 2009
Sickle cell anemia in northern Israel: screening and preventionAriel Koren, Lucia Zalman, Haya Palmor, et al.
Harefuah|December 13, 2002
[The prevention programs for beta thalassemia in the Jezreel and Eiron valleys: results of fifteen years experience]Ariel Koren, Lucia Zalman, Haia Palmor, et al.
Ophthalmic Genetics|February 5, 2003
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisSylvie Gerber, Isabelle Perrault, Sylvain Hanein, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|September 25, 2014
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variabilityMoran Gal, Erez Y Levanon, Yasir Hujeirat, et al.
European Journal of Endocrinology|March 29, 2017
A homozygous mutation of <i>GNRHR</i> in a familial case diagnosed with polycystic ovary syndromeSandrine Caburet, Ronit Beck Fruchter, Bérangère Legois, et al.
Pediatric Blood & Cancer|May 8, 2013
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance patternCarina Levin, Lucia Zalman, Hannah Tamary, et al.
Pediatric Hematology and Oncology|March 15, 2003
Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factorAriel Koren, Carina Levin, Yaser Hujirat, et al.
Mediterranean Journal of Hematology and Infectious Diseases|March 29, 2014
Prevention of β Thalassemia in Northern Israel - a Cost-Benefit AnalysisAriel Koren, Lora Profeta, Luci Zalman, et al.
Molecular Genetics and Metabolism|March 19, 2005
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humansRonen Spiegel, Gideon Bach, Vivi Sury, et al.
European Journal of Human Genetics : EJHG|August 19, 2010
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3Siddharth Banka, Elena Chervinsky, William G Newman, et al.
The Israel Medical Association Journal : IMAJ|July 17, 2009
Sickle cell anemia in northern Israel: screening and preventionAriel Koren, Lucia Zalman, Haya Palmor, et al.
Harefuah|December 13, 2002
[The prevention programs for beta thalassemia in the Jezreel and Eiron valleys: results of fifteen years experience]Ariel Koren, Lucia Zalman, Haia Palmor, et al.
Ophthalmic Genetics|February 5, 2003
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisSylvie Gerber, Isabelle Perrault, Sylvain Hanein, et al.
Pageof 6