Miski Mohamed

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Intellectual disability and bleeding diathesis due to deficient CMP–sialic acid transport

Miski Mohamed, Angel Ashikov, Maïlys Guillard et al. · Neurology · 2013 · 55 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Thatjana Gardeitchik, Miski Mohamed, Björn Fischer‐Zirnsak et al. · European Journal of Human Genetics · 2013 · 45 citations · Full text

Medicine, Biochemistry, Pathology +8

Unique presentation of cutis laxa with Leigh‐like syndrome due to <i>ECHS1</i> deficiency

S. Balasubramaniam, Lisa G. Riley, Drago Bratkovic et al. · Journal of Inherited Metabolic Disease · 2017 · 29 citations

Life Sciences, Genetics, Pathology +4