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Year | Number of Results |
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PubMed (cited) for id: 617431
7 results
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Page 1
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020.
NPJ Genom Med. 2020.
PMID: 33083013
Free PMC article.
Cholestasis Due to USP53 Deficiency.
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ.
Bull LN, et al.
J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926.
J Pediatr Gastroenterol Nutr. 2021.
PMID: 33075013
Free PMC article.
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Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS.
Zhang J, et al.
Liver Int. 2020 May;40(5):1142-1150. doi: 10.1111/liv.14422. Epub 2020 Apr 7.
Liver Int. 2020.
PMID: 32124521
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Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS.
Maddirevula S, et al.
Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25.
Genet Med. 2019.
PMID: 30250217
Free article.
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Progressive Hearing Loss in Mice Carrying a Mutation in Usp53.
Kazmierczak M, Harris SL, Kazmierczak P, Shah P, Starovoytov V, Ohlemiller KK, Schwander M.
Kazmierczak M, et al.
J Neurosci. 2015 Nov 25;35(47):15582-98. doi: 10.1523/JNEUROSCI.1965-15.2015.
J Neurosci. 2015.
PMID: 26609154
Free PMC article.
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Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases.
Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, Garabaya C, Cal S, López-Otín C.
Quesada V, et al.
Biochem Biophys Res Commun. 2004 Jan 30;314(1):54-62. doi: 10.1016/j.bbrc.2003.12.050.
Biochem Biophys Res Commun. 2004.
PMID: 14715245
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Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O.
Nagase T, et al.
DNA Res. 2000 Feb 28;7(1):65-73. doi: 10.1093/dnares/7.1.65.
DNA Res. 2000.
PMID: 10718198
Free article.
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