Concepedia

Heike Kölbel

HK

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Publications

37

Citations

1.5K

H-Index

21

Active since

2017

Affiliations

University of Duisburg-Essen(Current)

Ludwig-Maximilians-Universität München

University Hospital Münster

Charité - Universitätsmedizin Berlin

University of Freiburg

Heike Kölbel is an author at University of Duisburg-Essen specializing in medicine, pathology, and pediatrics.

ORCID

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Publications per year

2017–2025

37

Publications

37

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Katharina Vill, Heike Kölbel, Oliver Schwartz et al. · Journal of Neuromuscular Diseases · 2019 · 176 citations · Full text

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Katharina Vill, Oliver Schwartz, Astrid Blaschek et al. · Orphanet Journal of Rare Diseases · 2021 · 158 citations · Full text

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 149 citations · Full text

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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

Astrid Pechmann, Thorsten Langer, David Schorling et al. · Journal of Neuromuscular Diseases · 2018 · 144 citations · Full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

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