Amir Peleg

Merkaz Hakarmel, HA, Israel

Last Updated: 09/26/2026

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Found 25 publications

Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerance.

Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerance.

Journal: Platelets

Published: February 12, 2026

National Rapid Genome Sequencing in Neonatal Intensive Care.

National Rapid Genome Sequencing in Neonatal Intensive Care.

Journal: JAMA network open

Published: February 22, 2024

The effect of opting-in versus opting-out forming on the rate of reported variants of questionable significance in prenatal microarray.

The effect of opting-in versus opting-out forming on the rate of reported variants of questionable significance in prenatal microarray.

Journal: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

Published: February 20, 2024

Seeing is believing: Correlating optoelectronic functionality with atomic scale imaging of single semiconductor nanocrystals.

Seeing is believing: Correlating optoelectronic functionality with atomic scale imaging of single semiconductor nanocrystals.

Journal: The Journal of chemical physics

Published: January 16, 2024

HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?

HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?

Journal: Harefuah

Published: July 02, 2023

The anxiety caused by abnormal results of Down syndrome screening tests.

The anxiety caused by abnormal results of Down syndrome screening tests.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

Published: August 22, 2022

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Journal: Brain : a journal of neurology

Published: October 08, 2021

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

Journal: American journal of medical genetics. Part A

Published: February 12, 2021

Diagnostic yield and recognized barriers of an adult neurogenetics clinic.

Diagnostic yield and recognized barriers of an adult neurogenetics clinic.

Journal: Journal of community genetics

Published: November 14, 2020

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Journal: Clinical dysmorphology

Published: September 14, 2020

The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.

The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.

Journal: Archives of gynecology and obstetrics

Published: June 01, 2020

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Journal: Clinical genetics

Published: May 04, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026