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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2013 1
2016 2
2017 1
2018 1
2020 1
2021 2
2022 6
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali A, Athey T, Bahl S, Hung C, Caluseriu O, Chan A, Eaton A, Ghai SJ, Kannu P, MacPherson M, Niederhoffer KY, Siriwardena K, Mercimek-Andrews S. Mainali A, et al. Among authors: niederhoffer ky. Am J Med Genet A. 2023 Feb;191(2):510-517. doi: 10.1002/ajmg.a.63053. Epub 2022 Nov 19. Am J Med Genet A. 2023. PMID: 36401557 Review.
ANKRD26-related thrombocytopenia and myeloid malignancies.
Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL. Noris P, et al. Among authors: niederhoffer ky. Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. Blood. 2013. PMID: 24030261 Free article. No abstract available.
Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot.
Sharma R, Niederhoffer KY, Caluseriu O, Cooke CL, Hornberger LK, He R, Eckersley L, Lin L, Rushfeldt M, McBrien A. Sharma R, et al. Among authors: niederhoffer ky. Prenat Diagn. 2022 Feb;42(2):260-266. doi: 10.1002/pd.6102. Epub 2022 Jan 27. Prenat Diagn. 2022. PMID: 35060156
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
Bain JM, Thornburg O, Pan C, Rome-Martin D, Boyle L, Fan X, Devinsky O, Frye R, Hamp S, Keator CG, LaMarca NM, Maddocks ABR, Madruga-Garrido M, Niederhoffer KY, Novara F, Peron A, Poole-Di Salvo E, Salazar R, Skinner SA, Soares G, Goldman S, Chung WK. Bain JM, et al. Among authors: niederhoffer ky. Neurol Genet. 2021 Jan 29;7(1):e551. doi: 10.1212/NXG.0000000000000551. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33728377 Free PMC article.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: niederhoffer ky. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
14 results