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UnknownNovel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
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S-EPMC9354381 | biostudies-literature
UnknownAnkyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.
Not available
S-EPMC7474213 | biostudies-literature
UnknownNovel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
Not available
S-EPMC4196389 | biostudies-literature
UnknownClinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Not available
S-EPMC4644339 | biostudies-literature
UnknownFurther evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Not available
S-EPMC4327795 | biostudies-literature
UnknownIdentification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
Not available
S-EPMC10485853 | biostudies-literature
UnknownDistinct spatial activation of intrinsic and extrinsic apoptosis pathways in natural scrapie: association with prion-related lesions.
Not available
S-EPMC2701179 | biostudies-literature
UnknownA novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
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S-EPMC6052603 | biostudies-literature
UnknownNext Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Not available
S-EPMC5615433 | biostudies-literature
UnknownGene expression profiling and association with prion-related lesions in the medulla oblongata of symptomatic natural scrapie animals.
Not available
S-EPMC3101219 | biostudies-literature
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