Found: 2
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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 493, doi. 10.1002/ajmg.a.61484
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- Article
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 699, doi. 10.1111/cge.14312
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- Publication type:
- Article