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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20.
Genet Med. 2021.
PMID: 33473207
Free PMC article.
Family communication in a population at risk for hypertrophic cardiomyopathy.
Batte B, Sheldon JP, Arscott P, Huismann DJ, Salberg L, Day SM, Yashar BM.
Batte B, et al. Among authors: huismann dj.
J Genet Couns. 2015 Apr;24(2):336-48. doi: 10.1007/s10897-014-9774-8. Epub 2014 Oct 12.
J Genet Couns. 2015.
PMID: 25304619
Free article.
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Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.
Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM.
Huismann DJ, et al.
J Genet Couns. 2012 Oct;21(5):713-25. doi: 10.1007/s10897-012-9492-z. Epub 2012 Feb 25.
J Genet Couns. 2012.
PMID: 22367485
Free article.
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