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Case Reports in Endocrinology|December 16, 2014
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?Manal Mustafa, Nabil Moghrabi, Bassam Bin-AbbasMolecular Biology of the Cell|February 25, 2005
A mutation in dVps28 reveals a link between a subunit of the endosomal sorting complex required for transport-I complex and the actin cytoskeleton in DrosophilaEvgueni A Sevrioukov, Nabil Moghrabi, Mary Kuhn, et al.International Journal of Pediatrics & Adolescent Medicine|February 27, 2019
The first case report of double homozygous of 2 different mutations in the <i>CFTR</i> gene in Saudi ArabiaHanaa Banjar, Nabil Moghrabi, Tariq Alotaibi, et al.International Journal of Pediatrics & Adolescent Medicine|March 15, 2021
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi ArabiaHanaa Banjar, Ibrahim Al-Mogarri, Imran Nizami, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2018
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotypeNada Derar, Zuhair N Al-Hassnan, Mohammed Al-Owain, et al.Annals of Saudi Medicine|August 8, 2020
Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertilityTalal AlMaghamsi, Naeem Iqbal, Nabil Abdullrahman Al-Esaei, et al.Genes|September 27, 2025
Detection of Chromosomal Aneuploidy Using Exome SequencingMohamed H Al-Hamed, Sateesh Maddirevula, Nabil Moghrabi, et al.Annals of Saudi Medicine|February 7, 2020
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi ArabiaHanaa Hasan Banjar, Lin Tuleimat, Abdul Aziz Agha El Seoudi, et al.Molecular Genetics and Metabolism Reports|February 2, 2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi ArabiaMohamed H Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, et al.American Journal of Human Genetics|May 28, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous PopulationDorota Monies, Mohammed Abouelhoda, Mirna Assoum, et al.Pageof 2