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GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887.
medRxiv. 2024.
PMID: 37503210
Free PMC article.
Preprint.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S.
Arlt A, et al.
Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w.
Orphanet J Rare Dis. 2022.
PMID: 35101074
Free PMC article.
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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A.
Della Marina A, et al. Among authors: arlt a.
Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481.
Cells. 2021.
PMID: 34943989
Free PMC article.
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