2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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1. Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10;Pediatric Neurology;2024-09
2. Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia;Journal of Pediatric Neurology;2024-05-29
3. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study;The Cerebellum;2024-04-15
4. Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review;BMC Medical Genomics;2024-02-13
5. mRNA isoform balance in neuronal development and disease;WIREs RNA;2022-09-19
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