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7 . Periodical
Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- 저자
- by Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa, et al.
- 소스
- Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2079-2090, 12p
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7 . Periodical
Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
- 저자
- by Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N., et al.
- 소스
- Genetics in Medicine; 20230101, Issue: Preprints
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7 . Periodical
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4through evolutionary conserved vertebrate gene analysis
- 저자
- by Owen, Nicholas; Toms, Maria; Young, Rodrigo M.; Eintracht, Jonathan; Sarkar, Hajrah, et al.
- 소스
- Genetics in Medicine; 20220101, Issue: Preprints