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Elisabeth Rosser

Showing results (21-30 of 24) with videos related to

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American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, 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.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 3

Showing results (21-30 of 24) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 24 results.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, 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.
Brain Communications|September 1, 2021
Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse modelNeringa Jurkute, Michele Bertacchi, Gavin Arno, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 3