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Nicholas Pachter

Showing results (21-30 of 56) with videos related to

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European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
International Journal of Cancer|January 30, 2014
Population-based screening for Lynch syndrome in Western AustraliaLyn Schofield, Fabienne Grieu, Benhur Amanuel, et al.
European Thyroid Journal|March 30, 2018
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 SyndromesDorothée Bouron-Dal Soglio, Leanne de Kock, Richard Gauci, et al.
Circulation. Genomic and Precision Medicine|March 21, 2018
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome DataJustin O Szot, Hartmut Cuny, Gillian M Blue, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, 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.
Journal of Medical Genetics|November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utilityEmma Tudini, Aimee L Davidson, Uwe Dressel, et al.
Orphanet Journal of Rare Diseases|June 12, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical serviceGareth Baynam, Nicholas Pachter, Fiona McKenzie, et al.
Scientific Reports|June 25, 2013
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk menEmma Killick, Richard Morgan, Francesca Launchbury, et al.
Journal of the American College of Cardiology|August 4, 2018
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and DissectionMarjolijn Renard, Catherine Francis, Rajarshi Ghosh, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|March 3, 2021
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiencyKaren M Knapp, Danielle E Jenkins, Rosie Sullivan, et al.
International Journal of Cancer|January 30, 2014
Population-based screening for Lynch syndrome in Western AustraliaLyn Schofield, Fabienne Grieu, Benhur Amanuel, et al.
European Thyroid Journal|March 30, 2018
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 SyndromesDorothée Bouron-Dal Soglio, Leanne de Kock, Richard Gauci, et al.
Circulation. Genomic and Precision Medicine|March 21, 2018
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome DataJustin O Szot, Hartmut Cuny, Gillian M Blue, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, 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.
Journal of Medical Genetics|November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utilityEmma Tudini, Aimee L Davidson, Uwe Dressel, et al.
Orphanet Journal of Rare Diseases|June 12, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical serviceGareth Baynam, Nicholas Pachter, Fiona McKenzie, et al.
Scientific Reports|June 25, 2013
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk menEmma Killick, Richard Morgan, Francesca Launchbury, et al.
Journal of the American College of Cardiology|August 4, 2018
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and DissectionMarjolijn Renard, Catherine Francis, Rajarshi Ghosh, et al.
Pageof 6