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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Latorre-Pellicer A, et al. Among authors: weber a. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. Sci Rep. 2021. PMID: 34326454 Free PMC article.
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
Lübking A, Vosberg S, Konstandin NP, Dufour A, Graf A, Krebs S, Blum H, Weber A, Lenhoff S, Ehinger M, Spiekermann K, Greif PA, Cammenga J. Lübking A, et al. Among authors: weber a. Leuk Res Rep. 2015 Oct 17;4(2):72-5. doi: 10.1016/j.lrr.2015.10.001. eCollection 2015. Leuk Res Rep. 2015. PMID: 26716079 Free PMC article.
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A. Logeswaran T, et al. Among authors: weber a. Am J Med Genet A. 2017 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102. Am J Med Genet A. 2017. PMID: 28328125
Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.
Bedei I, Gehrke T, Gloning KP, Meyer-Wittkopf M, Willner D, Krapp M, Scharf A, Degenhardt J, Heling KS, Kozlowski P, Trautmann K, Jahns KM, Geipel A, Baumüller JE, Wilhelm L, Gottschalk I, Schröer A, Graf A, Wolter A, Schenk J, Weber A, Van den Veyver IB, Axt-Fliedner R. Bedei I, et al. Among authors: weber a. Prenat Diagn. 2023 Feb;43(2):192-206. doi: 10.1002/pd.6320. Epub 2023 Feb 9. Prenat Diagn. 2023. PMID: 36726284
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Schänzer A, et al. Among authors: weber a. Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. Epub 2021 Jun 5. Ann Neurol. 2021. PMID: 33999436 Free PMC article.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR. Beyltjens T, et al. Among authors: weber a. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14. J Med Genet. 2023. PMID: 36241386 Free PMC article.
4,131 results