Associated Papers
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
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Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Ghosh SG et al.
European Journal of Human Genetics : Ejhg, 2021
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