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Nicholas Pachter

Showing results (41-50 of 56) with videos related to

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Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndromeRomy Walker, Khalid Mahmood, Jihoon E Joo, et al.
Journal of Translational Medicine|April 26, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndromeRomy Walker, Khalid Mahmood, Jihoon E Joo, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 9, 2022
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family MembersRachel Delahunty, Linh Nguyen, Stuart Craig, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Genome Biology|December 1, 2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortStefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, et al.
The New England Journal of Medicine|November 20, 2024
Nationwide, Couple-Based Genetic Carrier ScreeningEdwin P Kirk, Martin B Delatycki, Alison D Archibald, et al.
The Lancet. Oncology|October 22, 2021
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective studyElizabeth K Bancroft, Elizabeth C Page, Mark N Brook, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Genetics in Medicine Open|December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipRachel Austin, Jaye S Brown, Sarah Casauria, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndromeRomy Walker, Khalid Mahmood, Jihoon E Joo, et al.
Journal of Translational Medicine|April 26, 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndromeRomy Walker, Khalid Mahmood, Jihoon E Joo, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 9, 2022
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family MembersRachel Delahunty, Linh Nguyen, Stuart Craig, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Genome Biology|December 1, 2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortStefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, et al.
The New England Journal of Medicine|November 20, 2024
Nationwide, Couple-Based Genetic Carrier ScreeningEdwin P Kirk, Martin B Delatycki, Alison D Archibald, et al.
The Lancet. Oncology|October 22, 2021
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective studyElizabeth K Bancroft, Elizabeth C Page, Mark N Brook, et al.
Pageof 6