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The adult phenotype of Schaaf-Yang syndrome.
Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8.
Orphanet J Rare Dis. 2020.
PMID: 33076953
Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F.
Velmans C, et al.
J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28.
J Med Genet. 2022.
PMID: 34321323
Free PMC article.
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Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.
Howaldt A, Lenglez S, Velmans C, Schultheis AM, Clahsen T, Matthaei M, Kohlhase J, Vokuhl C, Büttner R, Netzer C, Demoulin JB, Cursiefen C.
Howaldt A, et al. Among authors: velmans c.
Ophthalmol Sci. 2023 Dec 6;4(3):100444. doi: 10.1016/j.xops.2023.100444. eCollection 2024 May-Jun.
Ophthalmol Sci. 2023.
PMID: 38374928
Free PMC article.
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, 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, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, …
See abstract for full author list ➔
Lesmann H, et al. Among authors: velmans c.
medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887.
medRxiv. 2024.
PMID: 37503210
Free PMC article.
Preprint.
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First observation of dupilumab efficacy in an infant with SAM (severe dermatitis, multiple allergies and metabolic wasting) syndrome.
Körner RW, Velmans C, Dückers G, Tantcheva-Poór I.
Körner RW, et al. Among authors: velmans c.
J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1200-e1202. doi: 10.1111/jdv.19185. Epub 2023 May 18.
J Eur Acad Dermatol Venereol. 2023.
PMID: 37170963
No abstract available.
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Long-term outcome of arthroscopic debridement of massive irreparable rotator cuff tears.
Vogler T, Andreou D, Gosheger G, Kurpiers N, Velmans C, Ameziane Y, Schneider K, Rickert C, Liem D, Schorn D.
Vogler T, et al. Among authors: velmans c.
PLoS One. 2020 Nov 12;15(11):e0241277. doi: 10.1371/journal.pone.0241277. eCollection 2020.
PLoS One. 2020.
PMID: 33180802
Free PMC article.
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