Mohamed S. Abdel‐Hamid

机构：Benha University, National Human Genome Research Institute, National Research Centre · ORCID：0000-0002-2480-0147

发表论文 155 篇 · 总被引 2730 次 · h-index 21

代表论文

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation (2025 · The American Journal of Human Genetics · 被引 6)
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy (2025 · Science Translational Medicine · 被引 4)
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish (2024 · Brain Communications · 被引 4)
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities (2024 · npj Genomic Medicine · 被引 4)
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes (2025 · European Journal of Human Genetics · 被引 3)
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS (2025 · Nature Communications · 被引 3)