Disease: Hydrocephalus autosomal recessive
- A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
- A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10
- Alpha-Mannosidosis
- Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
- Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
- Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1
- Central nervous system involvement in individuals with RASopathies
- Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
- Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
- Congenital hydrocephalus and ligneous conjunctivitis in two children with severe type I plasminogen deficiency: A case report and literature review
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms
- Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
- Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study
- Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <em>POMT2</em> Missense Mutations
- FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan
- Heterozygous <em>HTRA1</em> Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees
- Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report
- KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
- Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy
- Mucopolysaccharidosis Type I
- Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
- Novel dominant-negative <em>FOXJ1</em> mutation in a family with heterotaxy plus mouse model
- Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
- Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia
- Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus
- Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
- Retinal manifestations in autosomal recessive <em>MPDZ</em> maculopathy: report of two cases and literature review
- Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review
- The effect of <em>Dnaaf5</em> gene dosage on primary ciliary dyskinesia phenotypes
- The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes