Hetzelt KLML - Search Results

Save citations to file

Email citations

Your saved search

Your RSS Feed

Page 1

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

Hetzelt KLML, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, Uebe S, Thiel CT, Kraus C, Reis A, Zweier C. Hetzelt KLML, et al. Am J Med Genet A. 2022 Jan;188(1):292-297. doi: 10.1002/ajmg.a.62496. Epub 2021 Sep 17. Am J Med Genet A. 2022. PMID: 34533271 Free article.

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Hetzelt KLML, Kraus C, Kusnik S, Thiel CT, Uebe S, Ekici AB, Trollmann R, Reis A, Zweier C. Hetzelt KLML, et al. Eur J Med Genet. 2020 Sep;63(9):103998. doi: 10.1016/j.ejmg.2020.103998. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622959

Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.

Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C. Hetzelt KLML, et al. Eur J Med Genet. 2021 Jan;64(1):104123. doi: 10.1016/j.ejmg.2020.104123. Epub 2020 Dec 15. Eur J Med Genet. 2021. PMID: 33338668

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

3 results

Search Page

Filters