Concepedia

Mary-Alice Abbott

MA

Statistics

Publications

2

Citations

59

H-Index

2

Active since

2021

Affiliations

University of Tübingen(Current)

University of Massachusetts Chan Medical School

Technical University of Munich

Mary-Alice Abbott is an author at University of Tübingen specializing in genetics, molecular genetics, and hearing loss.

Top concepts

Publications per year

2021–2021

2

Publications

2

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Éva Morava, Ulrich A. Schatz, Mary-Alice Abbott et al. · The American Journal of Human Genetics · 2021 · 19 citations · Full text

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