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List of works by Ghada Y El-Kamah

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

scientific article

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

scientific article published on 01 February 2010

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation

scientific article published on 06 August 2019

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

scientific article

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

article

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family

scientific article published on 29 May 2019

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