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R Weksberg

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Nature Genetics|December 1, 1995

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.

Nature Communications|December 23, 2015

NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.

European Journal of Pediatrics|February 1, 2000

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literatureC F Boerkoel, S O'Neill, J L André, et al.

Clinical Genetics|August 19, 2014

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.

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Search research articles

Showing results (81-90 of 84) with videos related to

Sort By:

Pageof 9

You have reached the last page of results.This site can display upto 84 results.

Nature Genetics|December 1, 1995

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.

Nature Communications|December 23, 2015

NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.

European Journal of Pediatrics|February 1, 2000

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literatureC F Boerkoel, S O'Neill, J L André, et al.

Clinical Genetics|August 19, 2014

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.

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