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Chloe Mighton

Showing results (61-70 of 68) with videos related to

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Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.
Journal of Medical Genetics|June 26, 2020
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort studySalma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Genetics|November 4, 2022
Genome screening, reporting, and genetic counseling for healthy populationsSelina Casalino, Erika Frangione, Monica Chung, et al.
Genetics in Medicine Open|June 8, 2026
Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV StudySelina Casalino, Navneet Aujla, Erika Frangione, et al.
Kidney International|August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney diseaseLaura R Claus, Chuan Chen, Jennifer Stallworth, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 7

Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.
Journal of Medical Genetics|June 26, 2020
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort studySalma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Genetics|November 4, 2022
Genome screening, reporting, and genetic counseling for healthy populationsSelina Casalino, Erika Frangione, Monica Chung, et al.
Genetics in Medicine Open|June 8, 2026
Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV StudySelina Casalino, Navneet Aujla, Erika Frangione, et al.
Kidney International|August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney diseaseLaura R Claus, Chuan Chen, Jennifer Stallworth, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 7