raoul-c documents

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Documents Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Intellectual disability, unusual facial morphology and hand anomalies in sibs
Documents Intellectual disability, unusual facial morphology and hand anomalies in sibs
Mutations in ZBTB20 cause Primrose syndrome
Documents Mutations in ZBTB20 cause Primrose syndrome
Phenotype and genotype in Nicolaides-Baraitser syndrome
Documents Phenotype and genotype in Nicolaides-Baraitser syndrome
Focal dermal hypoplasia without focal dermal hypoplasia
Documents Focal dermal hypoplasia without focal dermal hypoplasia
Ocular pterygium-Digital keloid dysplasia
Documents Ocular pterygium-Digital keloid dysplasia
Progressive extreme heterotopic calcification
Documents Progressive extreme heterotopic calcification