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Sean Ennis

Showing results (1-10 of 58) with videos related to

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The Journal of Urology|September 17, 2004
Tumor necrosis factor-alpha gene polymorphism in reflux nephropathyValeria Solari, Sean Ennis, Salvatore Cascio, et al.
Journal of Medical Genetics|April 14, 2012
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repairJillian P Casey, Michael Nobbs, Paul McGettigan, et al.
Journal of Child Neurology|May 21, 2019
<i>FARS2</i> Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease SpectrumEva B Forman, Kathleen M Gorman, Sean Ennis, et al.
Cells|December 22, 2019
Genetic Associations with Aging Muscle: A Systematic ReviewJedd Pratt, Colin Boreham, Sean Ennis, et al.
Scientific Reports|February 10, 2017
Genomic insights into the population structure and history of the Irish TravellersEdmund Gilbert, Shai Carmi, Sean Ennis, et al.
Prenatal Diagnosis|September 13, 2016
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencingJillian Casey, Karen Flood, Sean Ennis, et al.
Applied Immunohistochemistry & Molecular Morphology : AIMM|March 12, 2014
A study of alveolar rhabdomyosarcoma copy number alterations by single nucleotide polymorphism analysisMiriam Lynn, Naisha Shah, Judith Conroy, et al.
European Journal of Medical Genetics|February 8, 2014
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteriaJillian Casey, Paul McGettigan, Donal Brosnahan, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patientNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 30, 2015
Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohortNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
Pageof 6

Showing results (1-10 of 58) with videos related to

Sort By:
Pageof 6
The Journal of Urology|September 17, 2004
Tumor necrosis factor-alpha gene polymorphism in reflux nephropathyValeria Solari, Sean Ennis, Salvatore Cascio, et al.
Journal of Medical Genetics|April 14, 2012
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repairJillian P Casey, Michael Nobbs, Paul McGettigan, et al.
Journal of Child Neurology|May 21, 2019
<i>FARS2</i> Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease SpectrumEva B Forman, Kathleen M Gorman, Sean Ennis, et al.
Cells|December 22, 2019
Genetic Associations with Aging Muscle: A Systematic ReviewJedd Pratt, Colin Boreham, Sean Ennis, et al.
Scientific Reports|February 10, 2017
Genomic insights into the population structure and history of the Irish TravellersEdmund Gilbert, Shai Carmi, Sean Ennis, et al.
Prenatal Diagnosis|September 13, 2016
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencingJillian Casey, Karen Flood, Sean Ennis, et al.
Applied Immunohistochemistry & Molecular Morphology : AIMM|March 12, 2014
A study of alveolar rhabdomyosarcoma copy number alterations by single nucleotide polymorphism analysisMiriam Lynn, Naisha Shah, Judith Conroy, et al.
European Journal of Medical Genetics|February 8, 2014
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteriaJillian Casey, Paul McGettigan, Donal Brosnahan, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patientNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 30, 2015
Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohortNicholas M Allen, Judith Conroy, Amre Shahwan, et al.
Pageof 6