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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
