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Sean Ennis

Showing results (11-20 of 58) with videos related to

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Plos One|November 29, 2012
HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationshipsTiago R Magalhães, Jillian P Casey, Judith Conroy, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Clinical Dysmorphology|December 9, 2010
Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31-Xp22.12 deletionLouise Brigid Baker, Judith Conroy, Veronica Donoghue, et al.
Epilepsia|July 6, 2017
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotypeKathleen M Gorman, Eva Forman, Judith Conroy, et al.
Journal of Human Genetics|May 20, 2016
Novel European SLC1A4 variant: infantile spasms and population ancestry analysisJudith Conroy, Nicholas M Allen, Kathleen Gorman, et al.
European Journal of Human Genetics : EJHG|November 4, 2004
Uroplakin III is not a major candidate gene for primary vesicoureteral refluxHelena Kelly, Sean Ennis, Akihiro Yoneda, et al.
BMC Medical Genetics|July 1, 2015
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorderJillian P Casey, Patricia Goggin, Jennifer McDaid, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndromeDeirdre Máire Seoighe, Veselina Gadancheva, Regina Regan, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller populationJillian P Casey, Paul A McGettigan, Fiona Healy, et al.
Archives of Disease in Childhood|September 24, 2017
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?Eva B Forman, Kathleen M Gorman, Judith Conroy, et al.
Pageof 6

Showing results (11-20 of 58) with videos related to

Sort By:
Pageof 6
Plos One|November 29, 2012
HGDP and HapMap analysis by Ancestry Mapper reveals local and global population relationshipsTiago R Magalhães, Jillian P Casey, Judith Conroy, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Clinical Dysmorphology|December 9, 2010
Agenesis of the corpus callosum with midline lipoma associated with an Xp22.31-Xp22.12 deletionLouise Brigid Baker, Judith Conroy, Veronica Donoghue, et al.
Epilepsia|July 6, 2017
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotypeKathleen M Gorman, Eva Forman, Judith Conroy, et al.
Journal of Human Genetics|May 20, 2016
Novel European SLC1A4 variant: infantile spasms and population ancestry analysisJudith Conroy, Nicholas M Allen, Kathleen Gorman, et al.
European Journal of Human Genetics : EJHG|November 4, 2004
Uroplakin III is not a major candidate gene for primary vesicoureteral refluxHelena Kelly, Sean Ennis, Akihiro Yoneda, et al.
BMC Medical Genetics|July 1, 2015
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorderJillian P Casey, Patricia Goggin, Jennifer McDaid, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndromeDeirdre Máire Seoighe, Veselina Gadancheva, Regina Regan, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller populationJillian P Casey, Paul A McGettigan, Fiona Healy, et al.
Archives of Disease in Childhood|September 24, 2017
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?Eva B Forman, Kathleen M Gorman, Judith Conroy, et al.
Pageof 6