Shirly Amar

Beersheba, D 84105, Israel

Last Updated: 09/26/2026

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Found 12 publications

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement.

Journal: Genes

Published: July 15, 2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal: Journal of medical genetics

Published: April 29, 2026

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

Journal: Genes

Published: February 13, 2026

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Journal: Harefuah

Published: December 25, 2025

Efficacy and safety of anti-Xa direct oral anticoagulants vs. warfarin in patients homozygous for Factor V Leiden and prothrombin G20210A mutations.

Efficacy and safety of anti-Xa direct oral anticoagulants vs. warfarin in patients homozygous for Factor V Leiden and prothrombin G20210A mutations.

Journal: Journal of thrombosis and thrombolysis

Published: January 07, 2025

Adaptive Segmentation of DAPI-stained, C-banded, Aggregated and Overlapping Chromosomes.

Adaptive Segmentation of DAPI-stained, C-banded, Aggregated and Overlapping Chromosomes.

Journal: Cell biochemistry and biophysics

Published: July 19, 2024

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Journal: Journal of human genetics

Published: November 26, 2023

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

Journal: European journal of human genetics : EJHG

Published: January 08, 2023

Metaphase Cells Enrichment for Efficient Use in the Dicentric Chromosome Assay.

Metaphase Cells Enrichment for Efficient Use in the Dicentric Chromosome Assay.

Journal: Cell biochemistry and biophysics

Published: September 19, 2022

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Journal: Genes

Published: June 30, 2021

Massive postoperative pulmonary embolism in a young woman using oral contraceptives: the value of a preoperative anesthetic consult.

Massive postoperative pulmonary embolism in a young woman using oral contraceptives: the value of a preoperative anesthetic consult.

Journal: Acta anaesthesiologica Belgica

Published: September 17, 2014

Normobaric hyperoxia treatment of schizophrenia.

Normobaric hyperoxia treatment of schizophrenia.

Journal: Journal of clinical psychopharmacology

Published: June 23, 2012

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Last Updated: 09/26/2026