Concepedia

Saskia B. Wortmann

SB

Statistics

Publications

3

Citations

310

H-Index

3

Active since

2015

Affiliations

Radboud University Medical Center(Current)

Technical University of Munich

Helmholtz Zentrum München

Radboud University Nijmegen

Universität Hamburg

Saskia B. Wortmann is an author at Radboud University Medical Center specializing in genetic disorders, neurogenetic disorders, and genetics.

Publications per year

2015–2020

3

Publications

3

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

, , +17

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

, , +11

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