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Human genetics and molecular genomics of Chiari malformation type 1
UploadEvaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Download from doi.orgMolecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus
Download from doi.orgMutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Download from doi.orgImplications of Genetic Variants in Cerebral Palsy—Reply
UploadIt's time to offer genetic testing to all individuals diagnosed with cerebral palsy
UploadThe clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Download from academic.oup.comPhenotypic continuum of NFU1 ‐related disorders
Download from onlinelibrary.wiley.comA recurrent homozygous missense DPM3 variant leads to muscle and brain disease
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