Lista de obras -

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

artículo científico publicado en 2017

Amniotic trisomy 11 mosaicism—is it a benign finding?

article

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

artículo científico publicado en 2007

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

artículo científico publicado en 2015

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

artículo científico publicado en 2009

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

artículo científico publicado en 2011

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

artículo científico publicado en 2008

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

artículo científico publicado en 2006

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

artículo científico publicado en 2015

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

artículo científico publicado en 2013

Identification of the gene causing long QT syndrome in an Israeli family

artículo científico publicado en 2008

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

artículo científico publicado en 2018

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

artículo científico publicado en 2010

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

artículo científico publicado en 2017

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

artículo científico publicado en 2006

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis

artículo científico publicado en 2004

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia

artículo científico publicado en 2002

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

artículo científico publicado en 2017

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

artículo científico publicado en 2007

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

artículo científico publicado en 1998

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

artículo científico publicado en 2020

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

scientific article published on 31 July 2019

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

artículo científico publicado en 2018

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

scientific article published on 17 August 2020

Lista de obras de

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

Amniotic trisomy 11 mosaicism—is it a benign finding?

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Identification of the gene causing long QT syndrome in an Israeli family

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation