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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.

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.

Clinical Genetics|October 27, 2015

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.

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Showing results (81-90 of 83) with videos related to

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You have reached the last page of results.This site can display upto 83 results.

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.

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.

Clinical Genetics|October 27, 2015

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.

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