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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: schnabel f. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Natural history of adults with KBG syndrome: a physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Skjelmose Bolund AC, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: schnabel f. Genet Med. 2024 May 27:101170. doi: 10.1016/j.gim.2024.101170. Online ahead of print. Genet Med. 2024. PMID: 38818797
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: schnabel f. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
Effectiveness and toxicity of five-fraction prone accelerated partial breast irradiation.
Hardy-Abeloos C, Xiao J, Oh C, Barbee D, Shah B, Maisonet O, Perez C, Adams S, Schnabel F, Axelrod D, Guth A, Karp N, Cahlon O, Gerber N. Hardy-Abeloos C, et al. Among authors: schnabel f. Breast Cancer Res Treat. 2024 Apr;204(3):485-495. doi: 10.1007/s10549-023-07190-w. Epub 2024 Jan 6. Breast Cancer Res Treat. 2024. PMID: 38183516
Improving Information Extraction from Pathology Reports using Named Entity Recognition.
Zeng KG, Dutt T, Witowski J, Kranthi Kiran GV, Yeung F, Kim M, Kim J, Pleasure M, Moczulski C, Lopez LJL, Zhang H, Harbi MA, Shamout FE, Major VJ, Heacock L, Moy L, Schnabel F, Pak LM, Shen Y, Geras KJ. Zeng KG, et al. Among authors: schnabel f. Res Sq [Preprint]. 2023 Jul 3:rs.3.rs-3035772. doi: 10.21203/rs.3.rs-3035772/v1. Res Sq. 2023. PMID: 37461545 Free PMC article. Preprint.
125 results