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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
J Cardiovasc Transl Res. 2023 Dec;16(6):1325-1331. doi: 10.1007/s12265-023-10461-y. Epub 2023 Nov 16.
J Cardiovasc Transl Res. 2023.
PMID: 37973666
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Eskin-Schwartz M, Dolgin V, Didkovsky E, Aminov I, Pikovsky A, Hadar N, Kristal E, Ling G, Cohen I, Zilberman U, Birk OS.
Eskin-Schwartz M, et al. Among authors: aminov i.
Clin Genet. 2024 Jan;105(1):44-51. doi: 10.1111/cge.14432. Epub 2023 Oct 9.
Clin Genet. 2024.
PMID: 37814412
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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS.
Hadar N, et al. Among authors: aminov i.
Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12.
Hum Genet. 2024.
PMID: 38607411
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