-
1دورية أكاديمية
المصدر: Annals of Saudi Medicine, Vol 34, Iss 5, Pp 390-395 (2014)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
-
2
المؤلفون: Sulman Basit, Abdulkarim Aljohani, Abdul Nasir, Osama Ahmed Abd-Elsalam, Khushnooda Ramzan, Amr Eldardear, Firoz Abdusamad, Alia M. Albalawi, Amer Mahmood, Essa Alharby, Sabri A. M. Alhijji
المصدر: Clinical genetics. 92(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Muscle Hypotonia, Adolescent, Chromosomes, Human, Pair 21, Developmental Disabilities, Saudi Arabia, Gene Expression, Locus (genetics), Biology, 03 medical and health sciences, Consanguinity, Mutant protein, Cerebellum, Genetics, medicine, Humans, Genetic Predisposition to Disease, Protein Interaction Domains and Motifs, Global developmental delay, Nuclear protein, Child, Muscle, Skeletal, Genetics (clinical), 030102 biochemistry & molecular biology, Genome, Human, Binding protein, Homozygote, Chromosome Mapping, Nuclear Proteins, Hypotonia, Pedigree, 030104 developmental biology, Amino Acid Substitution, Genetic Loci, Mutation, Female, medicine.symptom, Binding domain, Protein Binding
-
3
المصدر: Annals of Saudi Medicine, Vol 34, Iss 5, Pp 390-395 (2014)
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, genetic structures, Saudi Arabia, lcsh:Medicine, Consanguinity, Biology, medicine.disease_cause, Glycogen storage disease type III, Glycogen Storage Disease Type III, Young Adult, Exon, medicine, Humans, Genetic Testing, RNA, Messenger, Child, Gene, Genetics, Mutation, Splice site mutation, lcsh:R, Glycogen Debranching Enzyme System, Exons, General Medicine, Middle Aged, medicine.disease, Founder Effect, Pedigree, Child, Preschool, Female, RNA Splice Sites, Founder effect