Ben Shakked-Pode

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 86 publications

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Journal: The Israel Medical Association journal : IMAJ

Published: August 06, 2026

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders.

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders.

Journal: Genes

Published: April 12, 2026

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Journal: NPJ genomic medicine

Published: December 27, 2025

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Journal: Clinical genetics

Published: September 15, 2025

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.

Journal: Clinical genetics

Published: July 18, 2025

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Journal: Orphanet journal of rare diseases

Published: August 24, 2024

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Journal: Clinical genetics

Published: August 05, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Reversal of Intestinal Failure With Teduglutide in PERCC1-Associated Enteropathy: A Case Report.

Reversal of Intestinal Failure With Teduglutide in PERCC1-Associated Enteropathy: A Case Report.

Journal: Annals of internal medicine

Published: May 06, 2024

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

Journal: Journal of inherited metabolic disease

Published: January 21, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Journal: Frontiers in genetics

Published: August 12, 2022

Showing 1-12 of 86

Last Updated: 09/26/2026