Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2022 | 1 |
2023 | 3 |
2024 | 1 |
Search Results
5 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Hereditary orotic aciduria identified by newborn screening.
Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.
Front Genet. 2023.
PMID: 36999056
Free PMC article.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S.
Daas S, et al. Among authors: damseh ns.
J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20.
J Inherit Metab Dis. 2023.
PMID: 36515074
Item in Clipboard
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
Damseh NS, Obeidat AN, Ahammed KS, Al-Ashhab M, Awad MA, van Hoof A.
Damseh NS, et al.
Am J Med Genet A. 2023 Jul;191(7):1923-1928. doi: 10.1002/ajmg.a.63198. Epub 2023 Apr 6.
Am J Med Genet A. 2023.
PMID: 37024942
Item in Clipboard
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T.
Rips J, et al. Among authors: damseh ns.
Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6.
Genet Med. 2024.
PMID: 38193396
Item in Clipboard
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.
Melchionda L, Damseh NS, Abu Libdeh BY, Nasca A, Elpeleg O, Zanolini A, Ghezzi D.
Melchionda L, et al. Among authors: damseh ns.
Front Genet. 2014 Nov 14;5:397. doi: 10.3389/fgene.2014.00397. eCollection 2014.
Front Genet. 2014.
PMID: 25452764
Free PMC article.
Item in Clipboard
Cite
Cite