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Nurit Magal

Rabin Medical Center

57

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The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: implications for prenatal setting.

2021 Prenatal Diagnosis
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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

2021 Clinical Genetics
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Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

2020 Genetics in Medicine
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The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

2019 Breast Cancer Research and Treatment
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Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

2017 Frontiers in Genetics
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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

2017 European Journal of Paediatric Neurology
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

2017 Journal of Clinical Investigation
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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

2016 Pediatric Blood & Cancer
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Founder mutation for Huntington disease in Caucasus Jews.

2015 Clinical Genetics
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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

2014 Journal of Lipid Research
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