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Year Number of Results
1993 1
2007 1
2010 1
2015 1
2017 1
2019 2
2020 2
2021 6
2022 6
2023 7
2024 3

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25 results

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Page 1
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.
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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33570896 Free Books & Documents. Review.
'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
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.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. 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.
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: marbach f. medRxiv [Preprint]. 2024 Mar 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
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.
25 results