Madiha Mohamed

Sharjah, SH, United Arab Emirates

Last Updated: 09/26/2026

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Found 18 publications

A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy.

A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy.

Journal: Cureus

Published: August 17, 2024

Juvenile Ossifying Fibroma of the Nasal Bones: A Rare Cause of Chronic Epistaxis.

Juvenile Ossifying Fibroma of the Nasal Bones: A Rare Cause of Chronic Epistaxis.

Journal: Cureus

Published: September 14, 2023

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome.

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome.

Journal: Cureus

Published: December 23, 2022

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Journal: European journal of medical genetics

Published: September 12, 2018

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Journal: Metabolic brain disease

Published: September 20, 2017

Novel SPG20 mutation in an extended family with Troyer syndrome.

Novel SPG20 mutation in an extended family with Troyer syndrome.

Journal: Metabolic brain disease

Published: May 14, 2017

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Journal: Annals of human genetics

Published: March 20, 2017

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

Journal: BMC medical genetics

Published: November 24, 2016

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Journal: International journal of dermatology

Published: August 11, 2016

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Journal: Metabolic brain disease

Published: June 17, 2016

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 10, 2016

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

Journal: BMC pediatrics

Published: April 07, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026