Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

130 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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 Free PMC article.
Nodal Burden and Oncologic Outcomes in Patients With Residual Isolated Tumor Cells After Neoadjuvant Chemotherapy (ypN0i+): The OPBC-05/ICARO Study.
Montagna G, Laws A, Ferrucci M, Mrdutt MM, Sun SX, Bademler S, Balbaloglu H, Balint-Lahat N, Banys-Paluchowski M, Barrio AV, Benson J, Bese N, Boughey JC, Boyle MK, Diego EJ, Eden C, Eller R, Goldschmidt M, Hlavin C, Heidinger M, Jelinska J, Karadeniz Cakmak G, Kesmodel SB, King TA, Kuerer HM, Loesch J, Milardi F, Murawa D, Moo TA, Menes TS, Passeri D, Pastoriza JM, Perhavec A, Pislar N, Polidorio N, Rami A, Ryu JM, Schulz A, Sevilimedu V, Ugurlu MU, Uras C, van Hemert A, Wong SM, Yoo TR, Zhang JQ, Karanlik H, Cabioğlu N, Peeters MV, Morrow M, Weber WP; ICARO Study Group. Montagna G, et al. J Clin Oncol. 2024 Nov 7:JCO2401052. doi: 10.1200/JCO.24.01052. Online ahead of print. J Clin Oncol. 2024. PMID: 39509672
Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Klötzer C, Schnabel F, Kubasch AS, Jentzsch M, Franke GN, Uhlig J, Faust H, Jauss RT, Oppermann H, Popp D, Metzeler KH, Lemke JR, Vučinić V, Platzbecker U. Klötzer C, et al. Among authors: schnabel f. Acta Haematol. 2024 Oct 28:1-5. doi: 10.1159/000542286. Online ahead of print. Acta Haematol. 2024. PMID: 39467528 Free article.
Diversity-enhanced canopy space occupation and leaf functional diversity jointly promote overyielding in tropical tree communities.
Ray T, Fichtner A, Kunz M, Proß T, Bradler PM, Bruelheide H, Georgi L, Haider S, Hildebrand M, Potvin C, Schnabel F, Trogisch S, von Oheimb G. Ray T, et al. Among authors: schnabel f. Sci Total Environ. 2024 Nov 15;951:175438. doi: 10.1016/j.scitotenv.2024.175438. Epub 2024 Aug 10. Sci Total Environ. 2024. PMID: 39134282 Free 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, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: schnabel 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.
Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau.
Krey I, Ahting S, Forstner A, Korte M, Meyer R, Schnabel F, Pieh D, Karnstedt M. Krey I, et al. Among authors: schnabel f. Med Genet. 2023 Dec 5;35(4):327-330. doi: 10.1515/medgen-2023-2058. eCollection 2023 Dec. Med Genet. 2023. PMID: 38841543 Free PMC article. German. No abstract available.
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, Bolund ACS, 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 Aug;26(8):101170. doi: 10.1016/j.gim.2024.101170. Epub 2024 May 27. Genet Med. 2024. PMID: 38818797
130 results