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Neurogenetics
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April 29, 2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
Ronen Spiegel, Avraham Shaag, Stavit Shalev, et al.
Journal of Pediatric Hematology/Oncology
|
January 18, 2005
Association of chronic symptomatic neutropenia with the triple A syndrome
Ronen Spiegel, Stavit Shalev, Angela Huebner, et al.
Hormone Research
|
April 4, 2006
Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature
Yasir Hujeirat, Ora Hess, Stavit Shalev, et al.
Prenatal Diagnosis
|
July 18, 2003
Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin
Amir Weiss, Stavit Shalev, Ehud Weiner, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2016
TBCK-related intellectual disability syndrome: Case study of two patients
Hanna Mandel, Morad Khayat, Elana Chervinsky, et al.
Prenatal Diagnosis
|
July 19, 2002
Prenatal diagnosis of extrahepatic biliary duct atresia
Moshe Ben-Ami, Yuri Perlitz, Stavit Shalev, et al.
JIMD Reports
|
August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, et al.
International Journal of Rheumatic Diseases
|
June 17, 2016
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis
Yoseph Horovitz, Osama Tanous, Morad Khayat, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
A homozygous TTN gene variant associated with lethal congenital contracture syndrome
Elena Chervinsky, Morad Khayat, Sofia Soltsman, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2006
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy
Dominique Ducroq, Stavit Shalev, Aviv Habib, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 53) with videos related to
Sort By:
Page
of 6
Neurogenetics
|
April 29, 2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
Ronen Spiegel, Avraham Shaag, Stavit Shalev, et al.
Journal of Pediatric Hematology/Oncology
|
January 18, 2005
Association of chronic symptomatic neutropenia with the triple A syndrome
Ronen Spiegel, Stavit Shalev, Angela Huebner, et al.
Hormone Research
|
April 4, 2006
Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature
Yasir Hujeirat, Ora Hess, Stavit Shalev, et al.
Prenatal Diagnosis
|
July 18, 2003
Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin
Amir Weiss, Stavit Shalev, Ehud Weiner, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2016
TBCK-related intellectual disability syndrome: Case study of two patients
Hanna Mandel, Morad Khayat, Elana Chervinsky, et al.
Prenatal Diagnosis
|
July 19, 2002
Prenatal diagnosis of extrahepatic biliary duct atresia
Moshe Ben-Ami, Yuri Perlitz, Stavit Shalev, et al.
JIMD Reports
|
August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, et al.
International Journal of Rheumatic Diseases
|
June 17, 2016
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis
Yoseph Horovitz, Osama Tanous, Morad Khayat, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
A homozygous TTN gene variant associated with lethal congenital contracture syndrome
Elena Chervinsky, Morad Khayat, Sofia Soltsman, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2006
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy
Dominique Ducroq, Stavit Shalev, Aviv Habib, et al.
Page
of 6