Disease: Hepatic fibrosis renal cysts mental retardation
- A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype
- An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts
- Bardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant
- Bardet-Biedl syndrome: a case report
- Disease with storage of neutral lipids (author's transl)
- Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination
- Joubert Syndrome with Orofacial Digital Features
- Joubert syndrome: large clinical variability and a unique neuroimaging aspect
- Joubert syndrome: Molecular basis and treatment
- Liver pathologies due to peroxisome disorders
- Nephronophthisis
- Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report an