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Page 1
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
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.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
Lesmann H, Hustinx A, Moosa S, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Klinkhammer H, Hagen MT, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Goel H, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Barakat TS, Nabil A, Suh J, Averdunk L, Ekure E, Graziano C, Phowthongkum P, Güzel N, Haack TB, Brunet T, Rudnik-Schöneborn S, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Martinez-Monseny AF, Höller M, Alaaeldin K, Jezela-Stanek A, Mohamed A, Lasa-Aranzasti A, Sayer JA, Hu P, Ledgister Hanchard SE, Elmakkawy G, Safwat S, Ebstein F, Krüger E, Küry S, Arlt A, Marbach F, Netzer C, Kaptain S, Weiland H, Li D, Dupuis L, Mendoza-Londono R, Houge SD, Weis D, Chung BH, Mak CCY, Devriendt K, Gripp KW, Mücke M, Verloes A, Schaaf CP, Nellåker C, Solomon BD, Waikel RL, Nöthen MM, Abdalla E, Lyon GJ, Krawitz PM, Hsieh TC.
Lesmann H, et al. Among authors: arlt a.
medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887.
medRxiv. 2024.
PMID: 37503210
Free PMC article.
Preprint.
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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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Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Arlt A, Knaus A, Hsieh TC, Klinkhammer H, Bhasin MA, Hustinx A, Moosa S, Krawitz P, Ekure E.
Arlt A, et al.
Am J Med Genet A. 2024 May 9:e63641. doi: 10.1002/ajmg.a.63641. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38725242
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