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Lista de obras de S Meldau

Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?

artículo científico publicado en 2016

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans

artículo científico publicado en 2010

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations

scientific article published on 09 July 2018

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

artículo científico publicado en 2018

Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene

artículo científico publicado en 2017

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings

artículo científico publicado en 2020

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

artículo científico publicado en 2020

Teenaged siblings with progressive neurocognitive disease

artículo científico publicado en 2013

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop

artículo científico publicado en 2015

Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population

artículo científico publicado en 2020

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