Reem Saadeh-Haddad

Pediatrics

Building 4
Washington, DC 20016

Last Updated: 09/26/2026

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Found 4 publications

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Response to Hall et al.

Response to Hall et al.

Journal: American journal of human genetics

Published: December 04, 2020

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Journal: Clinical genetics

Published: August 06, 2020

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Journal: American journal of human genetics

Published: May 02, 2020

Showing 1-4 of 4

Last Updated: 09/26/2026