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UnknownWhole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.
Not available
S-EPMC7501024 | biostudies-literature
UnknownAssociation study of two single nucleotide polymorphisms rs10757278 and rs1333049 with atherosclerosis, a case-control study from Iraq.
Not available
S-EPMC6802693 | biostudies-literature
UnknownNovel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
Not available
S-EPMC8015564 | biostudies-literature
UnknownA novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.
Not available
S-EPMC10690952 | biostudies-literature
UnknownChanging trends in appendiceal pathology: a 16-year retrospective extension study of surgically removed appendices in a tropical teaching hospital.
Not available
S-EPMC12752349 | biostudies-literature
UnknownWhole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome.
Not available
S-EPMC9957204 | biostudies-literature
UnknownA Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy.
Not available
S-EPMC7494885 | biostudies-literature
UnknownPeriodontal pathogens promote epithelial-mesenchymal transition in oral squamous carcinoma cells in vitro.
Not available
S-EPMC5927641 | biostudies-literature
UnknownWhole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Not available
S-EPMC10928473 | biostudies-literature
UnknownA novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.
Not available
S-EPMC7441036 | biostudies-literature
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