Sahar M. Mansour

London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 114 publications

An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene.

An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene.

Journal: Cardiology in the young

Published: February 09, 2026

ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.

ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.

Journal: Journal of medical genetics

Published: November 10, 2025

A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.

A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.

Journal: Prenatal diagnosis

Published: September 17, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 11, 2025

What causes lymphopenia in primary lymphatic anomalies? Implications for understanding lymphocyte homeostasis.

What causes lymphopenia in primary lymphatic anomalies? Implications for understanding lymphocyte homeostasis.

Journal: Clinical and experimental immunology

Published: May 14, 2025

Outcome of Tetralogy of Fallot Through Initial Palliation and Surgical Repair.

Outcome of Tetralogy of Fallot Through Initial Palliation and Surgical Repair.

Journal: Pediatric cardiology

Published: April 25, 2025

Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report.

Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report.

Journal: European journal of medical genetics

Published: February 13, 2025

PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.

PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.

Journal: iScience

Published: December 09, 2024

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

Journal: Orphanet journal of rare diseases

Published: November 06, 2024

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.

Journal: European journal of immunology

Published: September 13, 2024

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Journal: Journal of medical genetics

Published: September 07, 2024

Showing 1-12 of 114

Last Updated: 09/26/2026