Concepedia

Bradley J. Williams

BJ

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Publications

2

Citations

148

H-Index

2

Active since

2011

Affiliations

Casa Sollievo della Sofferenza(Current)

Bradley J. Williams is an author at Casa Sollievo della Sofferenza specializing in medicine, pathology, and molecular genetics.

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Publications per year

2011–2013

2

Publications

2

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella et al. · Human Mutation · 2011 · 126 citations · Full text

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

Claudia Matos‐Miranda, Graeme Nimmo, Bradley J. Williams et al. · Genetics in Medicine · 2013 · 22 citations · Full text

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