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In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease
Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype
In vitro 3D phenotypic drug screen identifies celastrol as an effective in vivo inhibitor of polycystic kidney disease
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Expanding the therapeutic possibilities of NOTCH3 Cysteine Quantity Correction in CADASIL
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
A unifying genetic model for facioscapulohumeral muscular dystrophy
