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Journal of Genetic Counseling
|
November 24, 2011
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population
Miri Yanoov-Sharav, Esther Leshinsky-Silver, Sarit Cohen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 31, 2015
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder
Lubov Blumkin, Teisha Bradshaw, Marina Michelson, et al.
Neurogenetics
|
June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
The American Journal of Gastroenterology
|
May 19, 2007
Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity
Amir Karban, Maza Itay, Ofir Davidovich, et al.
Journal of Child Neurology
|
September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation
Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
Journal of Child Neurology
|
August 31, 2016
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
Maya Kuperberg, Dorit Lev, Lubov Blumkin, et al.
Neurogenetics
|
February 1, 2012
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
Peter Bauer, Esther Leshinsky-Silver, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 16, 2011
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
Lubov Blumkin, Arvid Suls, Tine Deconinck, et al.
Pediatrics
|
November 3, 2004
Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity
Eytan Wine, Shimon S Reif, Esther Leshinsky-Silver, et al.
Pediatric Research
|
September 9, 2005
Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort
Esther Leshinsky-Silver, Amir Karban, Erena Buzhakor, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 69) with videos related to
Sort By:
Page
of 7
Journal of Genetic Counseling
|
November 24, 2011
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population
Miri Yanoov-Sharav, Esther Leshinsky-Silver, Sarit Cohen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 31, 2015
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder
Lubov Blumkin, Teisha Bradshaw, Marina Michelson, et al.
Neurogenetics
|
June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
The American Journal of Gastroenterology
|
May 19, 2007
Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity
Amir Karban, Maza Itay, Ofir Davidovich, et al.
Journal of Child Neurology
|
September 24, 2014
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation
Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar, et al.
Journal of Child Neurology
|
August 31, 2016
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients
Maya Kuperberg, Dorit Lev, Lubov Blumkin, et al.
Neurogenetics
|
February 1, 2012
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
Peter Bauer, Esther Leshinsky-Silver, Lubov Blumkin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 16, 2011
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
Lubov Blumkin, Arvid Suls, Tine Deconinck, et al.
Pediatrics
|
November 3, 2004
Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity
Eytan Wine, Shimon S Reif, Esther Leshinsky-Silver, et al.
Pediatric Research
|
September 9, 2005
Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort
Esther Leshinsky-Silver, Amir Karban, Erena Buzhakor, et al.
Page
of 7