Nabil Moghrabi
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hormonal Regulation and Hypertension, Neonatal Respiratory Health Research, Cystic Fibrosis Research Advances
Most-Cited Works
- → Deficient 17β-Hydroxysteroid Dehydrogenase Type 2 Expression in Endometriosis: Failure to Metabolize 17β-Estradiol1(1998)313 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → A Role for the deep orange and carnation Eye Color Genes in Lysosomal Delivery in Drosophila(1999)207 cited
- → Physiology and molecular genetics of 17β-hydroxysteroid dehydrogenases(1997)154 cited
- → Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias(1997)139 cited
- → Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2(1993)83 cited
- → Deleterious Missense Mutations and Silent Polymorphism in the Human 17β-Hydroxysteroid Dehydrogenase 3 Gene (HSD17B3)1(1998)78 cited
- → Cell Type-Specific Expression of 17β-Hydroxysteroid Dehydrogenase Type 2 in Human Placenta and Fetal Liver1(1997)53 cited
- Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.(1993)
- → A Mutation indVps28Reveals a Link between a Subunit of the Endosomal Sorting Complex Required for Transport-I Complex and the Actin Cytoskeleton inDrosophila(2005)50 cited