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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 variability
Moran 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 syndrome
Sandrine Caburet, Ronit Beck Fruchter, Bérangère Legois, et al.
Pediatric Blood & Cancer
|
May 8, 2013
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern
Carina 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 factor
Ariel 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 Analysis
Ariel 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 humans
Ronen 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 G6PC3
Siddharth 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 prevention
Ariel 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 amaurosis
Sylvie Gerber, Isabelle Perrault, Sylvain Hanein, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 53) with videos related to
Sort By:
Page
of 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 variability
Moran 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 syndrome
Sandrine Caburet, Ronit Beck Fruchter, Bérangère Legois, et al.
Pediatric Blood & Cancer
|
May 8, 2013
Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern
Carina 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 factor
Ariel 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 Analysis
Ariel 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 humans
Ronen 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 G6PC3
Siddharth 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 prevention
Ariel 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 amaurosis
Sylvie Gerber, Isabelle Perrault, Sylvain Hanein, et al.
Page
of 6