Rare Diseases
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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 |
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. Arslan Elif Acar et al. Brain & development 2019 Sep |