Concepedia

Alice Steinbrecher

AS

5

Publications

965

Citations

5

H-Index

2002

Active since

Affiliations

Essen University Hospital(Current)

University of Toronto

University of Helsinki

Radboud University Nijmegen

University of Chicago

Alice Steinbrecher is an author at Essen University Hospital specializing in inherited metabolic disease, medicine, and neuropathology.

Top concepts

Publications per year

2002–2010

5

Publications

5

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 684 citations · Full text

, , +8

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Jeroen van Reeuwijk, Prabhjit K. Grewal, Mustafa A. Salih et al. · Human Genetics · 2007 · 142 citations · Full text

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Florian von Deimling, Shrikesh Sachdev, Wesley J. Errington et al. · Brain · 2010 · 77 citations · Full text

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Wenli Zhang, Jiri Vajsar, Pinjiang Cao et al. · Clinical Biochemistry · 2003 · 52 citations

, , +5

Zhang, W. et al. Enzymatic diagnostic test for muscle-eye-brain type congenital muscular dystrophy using commercially available reagents. Clin. Biochem. 36, 339-344

Jiri Vajsar, Pinjiang Cao, Galen N. Breningstall et al. · 2003 · 10 citations

, , +8

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