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Genes, Chromosomes & Cancer|April 2, 2011
Copy number profiling in von Hippel-Lindau disease renal cell carcinomaSalwati Shuib, Wenbin Wei, Hariom Sur, et al.European Journal of Human Genetics : EJHG|July 28, 2011
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndromePeter Hammond, Femke Hannes, Michael Suttie, et al.Journal of Medical Genetics|September 18, 2017
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testingJosie Innes, Lisa Reali, Jill Clayton-Smith, et al.NIHR Open Research|October 25, 2023
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine ServiceMelissa Hill, Sian Ellard, Jane Fisher, et al.Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.Pageof 2