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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
- Published in:
- 2020
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- Publication type:
- journal article
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 3, p. 515, doi. 10.1007/s00415-011-6213-8
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- Publication type:
- Article