Hamad I. Zaidan-Al
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 14 publications
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Journal: American journal of medical genetics. Part A
Published: November 30, 2020
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
Journal: American journal of medical genetics. Part A
Published: June 02, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Journal: Omics : a journal of integrative biology
Published: February 28, 2020
Optic neuropathy in classical methylmalonic acidemia.
Journal: Ophthalmic genetics
Published: July 05, 2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Journal: Molecular genetics and metabolism reports
Published: November 11, 2018
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Journal: American journal of medical genetics. Part A
Published: June 24, 2018
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Journal: Annals of neurology
Published: June 13, 2017
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Journal: Molecular genetics and metabolism reports
Published: January 25, 2017
Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.
Journal: Intractable & rare diseases research
Published: September 28, 2016
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Journal: American journal of medical genetics. Part A
Published: July 02, 2016
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.
Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia.
Journal: International journal of pediatrics & adolescent medicine
Published: December 16, 2015
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 18, 2015
Last Updated: 09/26/2026