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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
Hum Mutat. 2019.
PMID: 31343788
Free PMC article.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB.
Rajagopalan R, et al. Among authors: nassur ja.
Genet Med. 2021 Feb;23(2):323-330. doi: 10.1038/s41436-020-00989-8. Epub 2020 Oct 20.
Genet Med. 2021.
PMID: 33077891
Free PMC article.
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Correction to: The quality of online information on Legg-Calvé-Perthes disease: can we do better?
Nassur JA, Samuel LT, Acuña AJ, Ellsworth B, Kamath AF.
Nassur JA, et al.
Arch Orthop Trauma Surg. 2023 Nov;143(11):6577. doi: 10.1007/s00402-023-05071-x.
Arch Orthop Trauma Surg. 2023.
PMID: 37702785
No abstract available.
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The quality of online information on Legg-Calvé-Perthes disease: can we do better?
Nassur JA, Samuel LT, Acuña AJ, Ellsworth B, Kamath AF.
Nassur JA, et al.
Arch Orthop Trauma Surg. 2023 Nov;143(11):6569-6576. doi: 10.1007/s00402-023-04974-z. Epub 2023 Jul 6.
Arch Orthop Trauma Surg. 2023.
PMID: 37415047
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