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Edwin P Kirk

Showing results (91-100 of 117) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyEdwin P Kirk, Margaret Sunde, Mauro W Costa, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
BMJ Open|June 16, 2026
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocolJanet C Long, Alison D Archibald, Klay Lamprell, et al.
Human Molecular Genetics|June 9, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyElizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyEdwin P Kirk, Margaret Sunde, Mauro W Costa, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
BMJ Open|June 16, 2026
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocolJanet C Long, Alison D Archibald, Klay Lamprell, et al.
Human Molecular Genetics|June 9, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyElizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Pageof 12