Ghada M. H. Abdel‐Salam

机构：National Human Genome Research Institute · ORCID：0000-0003-2893-8802

发表论文 154 篇 · 总被引 6198 次 · h-index 34

代表论文

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum (2024 · Genetics in Medicine · 被引 12)
Delineating the phenotype of PNPLA8 ‐related mitochondriopathies (2023 · Clinical Genetics · 被引 9)
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors (2023 · JCI Insight · 被引 8)
HPDL Variant Type Correlates With Clinical Disease Onset and Severity (2025 · Annals of Clinical and Translational Neurology · 被引 4)
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities (2024 · npj Genomic Medicine · 被引 4)
Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients (2025 · BMC Pediatrics · 被引 3)