Noam Hadar

Beersheba, D 84105, Israel

Last Updated: 09/26/2026

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Found 27 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

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

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: December 31, 2024

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 29, 2024

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

Journal: NPJ genomic medicine

Published: November 24, 2024

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Journal: JIMD reports

Published: November 09, 2024

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.

Journal: Kidney international reports

Published: October 09, 2024

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

Journal: Clinical kidney journal

Published: October 08, 2024

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Journal: Clinical genetics

Published: September 04, 2024

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Journal: NPJ genomic medicine

Published: August 18, 2024

GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

Journal: Database : the journal of biological databases and curation

Published: March 20, 2024

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

Journal: Journal of medical genetics

Published: February 10, 2024

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Last Updated: 09/26/2026