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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

4,131 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1.
Weber A, Schwarz SC, Tost J, Trümbach D, Winter P, Busato F, Tacik P, Windhorst AC, Fagny M, Arzberger T, McLean C, van Swieten JC, Schwarz J, Vogt Weisenhorn D, Wurst W, Adhikary T, Dickson DW, Höglinger GU, Müller U. Weber A, et al. Nat Commun. 2018 Jul 26;9(1):2929. doi: 10.1038/s41467-018-05325-y. Nat Commun. 2018. PMID: 30050033 Free PMC article.
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.
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.
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
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