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R Savarirayan

Showing results (41-50 of 44) with videos related to

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Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.
Journal of Medical Genetics|November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceD L Bruno, D Ganesamoorthy, J Schoumans, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
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Showing results (41-50 of 44) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 44 results.
Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.
Journal of Medical Genetics|November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceD L Bruno, D Ganesamoorthy, J Schoumans, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsT Roscioli, G Elakis, T C Cox, et al.
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