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Year Number of Results
1993 1
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2010 1
2015 1
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2021 7
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Page 1
Schaaf-Yang Syndrome.
Schaaf CP, Marbach F. Schaaf CP, et al. Among authors: marbach f. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 33570896 Free Books & Documents. Review.
Frank-Majewski-Preisträger 2022.
Marbach F. Marbach F. Med Genet. 2022 Nov 29;34(4):307-308. doi: 10.1515/medgen-2022-2167. eCollection 2022 Dec. Med Genet. 2022. PMID: 38836094 Free PMC article. German. No abstract available.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: marbach f. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
'Feedback' for feeding.
Marbach F, Stephenson-Jones M. Marbach F, et al. Nat Neurosci. 2021 Mar;24(3):293-294. doi: 10.1038/s41593-021-00799-4. Nat Neurosci. 2021. PMID: 33547449 No abstract available.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, Héron B, Keren B, Caro P, Schaaf CP. Marbach F, et al. Am J Med Genet A. 2022 Sep;188(9):2627-2636. doi: 10.1002/ajmg.a.62884. Epub 2022 Jul 5. Am J Med Genet A. 2022. PMID: 35789103
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L. Busley AV, et al. Among authors: marbach f. Cell Rep. 2024 Jul 23;43(7):114448. doi: 10.1016/j.celrep.2024.114448. Epub 2024 Jul 13. Cell Rep. 2024. PMID: 39003740 Free article.
Functional and Radiologic Outcomes of Degenerative Versus Traumatic Full-Thickness Rotator Cuff Tears Involving the Supraspinatus Tendon.
Baum C, Audigé L, Stojanov T, Müller SA, Candrian C; ARCR_Pred Study Group; Müller AM, Rosso C, Fankhauser L, Willscheid G, Moroder P, Akgün D, Danzinger V, Gebauer H, Imiolczyk JP, Karpinski K, Lacheta L, Minkus M, Paksoy A, Samaniego E, Thiele K, Weiss I, Suter T, Müller-Lebschi J, Mueller S, Saner M, Haag-Schumacher C, Tamborrini-Schütz G, Trong MLD, Buitrago-Tellez C, Hasler J, Riede U, Weber S, Moor B, Biner M, Fournier S, Gallusser N, Marietan D, Pawlak S, Spormann C, Hansen B, Mamisch N, Durchholz H, Bräm J, Cunningham G, Kourhani A, Ossipow S, Simao P, Lädermann A, Egli R, Erdbrink S, Flückiger R, Lombardo P, Pinworasarn T, Scacchi P, Weihs J, Zumstein M, Flury M, Berther R, Ehrmann C, Hübscher L, Schwappach D, Eid K, Bensler S, Fritz Y, Grünberger N, Kriechling P, Langthaler D, Niehaus R, Nobs R, Benninger E, de Groot Q, Doert A, Ebert S, Grimm P, Mottier F, Pisan M, Schätz J, Schwank A, Wiedenbach J, Scheibel M, Audigé L, Bellmann F, Brune D, de Jong M, Diermayr S, Endell D, Etter M, Freislederer F, Gkikopoulos N, Glanzmann M, Grobet C, Jung C, Moro F, Moroder P, Ringer R, Schätz J, Schwyzer HK, Weber B, Wehrli M, Wirth B, Nötzli M, Franz A, Oswald J, Steiger B, Ameziane… See abstract for full author list ➔ Baum C, et al. Among authors: marbach f. Am J Sports Med. 2024 Feb;52(2):441-450. doi: 10.1177/03635465231219253. Epub 2024 Jan 23. Am J Sports Med. 2024. PMID: 38259113 Free PMC article.
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, Hagen MT, 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, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: marbach f. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
Response to Briuglia et al.
Marbach F, Schaaf CP. Marbach F, et al. Genet Med. 2021 Feb;23(2):423-424. doi: 10.1038/s41436-020-00977-y. Epub 2020 Oct 5. Genet Med. 2021. PMID: 33012786 Free article. No abstract available.
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, Hagen MT, Thong MK, Mazlan RAB, 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, Chorin O, Zarat… See abstract for full author list ➔ Lesmann H, et al. Among authors: marbach f. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
31 results