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2023 | 1 |
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HJV mutations causing hemochromatosis: variable phenotypic expression in a pair of twins.
Haematologica. 2024 Aug 1;109(8):2741-2744. doi: 10.3324/haematol.2023.284134.
Haematologica. 2024.
PMID: 38450514
Free PMC article.
No abstract available.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW.
Scala M, et al.
medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
medRxiv. 2023.
Update in:
Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003
PMID: 38234782
Free PMC article.
Updated.
Preprint.
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