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
2009 1
2011 1
2012 2
2013 1
2015 1
2016 1
2017 3
2018 3
2020 2
2021 5
2022 5
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Ocular findings of oculomotor apraxia/ataxia type 1.
Sonmez HK, Gulmez Sevim D, Gultekin M, Simsir G, Basak AN. Sonmez HK, et al. Among authors: basak an. Can J Ophthalmol. 2023 Feb;58(1):e44-e46. doi: 10.1016/j.jcjo.2022.06.006. Epub 2022 Jul 7. Can J Ophthalmol. 2023. PMID: 35809623 No abstract available.
Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.
Akdal G, Koçoğlu K, Koçoğlu C, Bora E, Nazlı Başak A, Michael Halmágyi G. Akdal G, et al. Among authors: nazli basak a. Clin Neurophysiol. 2021 Jan;132(1):77-79. doi: 10.1016/j.clinph.2020.10.012. Epub 2020 Nov 4. Clin Neurophysiol. 2021. PMID: 33248435 No abstract available.
A rare case of juvenile amyotrophic lateral sclerosis.
Bodur M, Toker RT, Başak AN, Okan MS. Bodur M, et al. Among authors: basak an. Turk J Pediatr. 2021;63(3):495-499. doi: 10.24953/turkjped.2021.03.017. Turk J Pediatr. 2021. PMID: 34254495 Free article.
25 results