A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

(2010) Deborah J Morris-Rosendahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characteristics of inherited congenital cataracts

(2010) Bingyu Huang et al.   European Journal of Medical Genetics

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways

(2010) Dilek Colak et al.   GENOMICS

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

(2008) Forbes D Porter   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

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Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

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