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NPJ Genomic Medicine
|
July 20, 2021
Incidental findings from cancer next generation sequencing panels
Nika Maani, Karen Panabaker, Jeanna M McCuaig, et al.
Frontiers in Genetics
|
June 8, 2026
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
Inas Al-Younis, Laurence Basque, Nicolas Crapoulet, et al.
Human Molecular Genetics
|
October 10, 2013
NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation
Sangeetha Mahadevan, Shu Wen, Ying-Wooi Wan, et al.
Current Oncology (Toronto, Ont.)
|
October 27, 2022
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level
Pratibha Bhai, Benjamin Chin-Yee, Victor Pope, et al.
Frontiers in Oncology
|
July 24, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory
Pratibha Bhai, Jacob Turowec, Stephanie Santos, et al.
Genes
|
July 27, 2024
De Novo Pathogenic Variant in <i>FBRSL1</i>, Non OMIM Gene Paralogue <i>AUTS2</i>, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, et al.
CMAJ Open
|
November 8, 2022
Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review
Benjamin Chin-Yee, Maxim Matyashin, Ian Cheong, et al.
Genes
|
January 21, 2023
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo <i>KAT6A</i> Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, et al.
Frontiers in Genetics
|
July 30, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
Pratibha Bhai, Michael A Levy, Kathleen Rooney, et al.
Genes
|
August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes
Keri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
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Search research articles
Search
Showing results (91-100 of 231) with videos related to
Sort By:
Page
of 24
NPJ Genomic Medicine
|
July 20, 2021
Incidental findings from cancer next generation sequencing panels
Nika Maani, Karen Panabaker, Jeanna M McCuaig, et al.
Frontiers in Genetics
|
June 8, 2026
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
Inas Al-Younis, Laurence Basque, Nicolas Crapoulet, et al.
Human Molecular Genetics
|
October 10, 2013
NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation
Sangeetha Mahadevan, Shu Wen, Ying-Wooi Wan, et al.
Current Oncology (Toronto, Ont.)
|
October 27, 2022
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level
Pratibha Bhai, Benjamin Chin-Yee, Victor Pope, et al.
Frontiers in Oncology
|
July 24, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory
Pratibha Bhai, Jacob Turowec, Stephanie Santos, et al.
Genes
|
July 27, 2024
De Novo Pathogenic Variant in <i>FBRSL1</i>, Non OMIM Gene Paralogue <i>AUTS2</i>, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, et al.
CMAJ Open
|
November 8, 2022
Secondary causes of elevated hemoglobin in patients undergoing molecular testing for suspected polycythemia vera in southwestern Ontario: a chart review
Benjamin Chin-Yee, Maxim Matyashin, Ian Cheong, et al.
Genes
|
January 21, 2023
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo <i>KAT6A</i> Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis
Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, et al.
Frontiers in Genetics
|
July 30, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
Pratibha Bhai, Michael A Levy, Kathleen Rooney, et al.
Genes
|
August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes
Keri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
Page
of 24