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Successful treatment of trichothiodystrophy with dupilumab.
Gruber R, Zschocke A, Zellner H, Schmuth M. Gruber R, et al. Among authors: zellner h. Clin Exp Dermatol. 2021 Oct;46(7):1381-1383. doi: 10.1111/ced.14642. Epub 2021 May 6. Clin Exp Dermatol. 2021. PMID: 33955026 Free PMC article.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB. Danhauser K, et al. Among authors: zellner h. Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401461 Free PMC article.
Annotation of biologically relevant ligands in UniProtKB using ChEBI.
Coudert E, Gehant S, de Castro E, Pozzato M, Baratin D, Neto T, Sigrist CJA, Redaschi N, Bridge A; UniProt Consortium. Coudert E, et al. Bioinformatics. 2023 Jan 1;39(1):btac793. doi: 10.1093/bioinformatics/btac793. Bioinformatics. 2023. PMID: 36484697 Free PMC article.
UniRule: a unified rule resource for automatic annotation in the UniProt Knowledgebase.
MacDougall A, Volynkin V, Saidi R, Poggioli D, Zellner H, Hatton-Ellis E, Joshi V, O'Donovan C, Orchard S, Auchincloss AH, Baratin D, Bolleman J, Coudert E, de Castro E, Hulo C, Masson P, Pedruzzi I, Rivoire C, Arighi C, Wang Q, Chen C, Huang H, Garavelli J, Vinayaka CR, Yeh LS, Natale DA, Laiho K, Martin MJ, Renaux A, Pichler K; The UniProt Consortium. MacDougall A, et al. Among authors: zellner h. Bioinformatics. 2021 Apr 1;36(22-23):5562. doi: 10.1093/bioinformatics/btaa663. Bioinformatics. 2021. PMID: 33821964 Free PMC article. No abstract available.
33 results