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Journal of Human Genetics
|
June 3, 2020
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature
Erfan Aref-Eshghi, Jacob D McGee, Victor P Pedro, et al.
Clinical Epigenetics
|
April 29, 2025
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, et al.
American Journal of Medical Genetics. Part A
|
December 10, 2020
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.
Genome Biology
|
August 15, 2019
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1
Daniel E Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, et al.
The Journal of Nutrition
|
October 21, 2011
Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring
Alfred Balasa, Amarilis Sanchez-Valle, Bekim Sadikovic, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2025
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
Tinatin Tkemladze, Christopher Campbell, Kakha Bregvadze, et al.
Journal of Human Genetics
|
May 17, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case
Annalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, et al.
International Journal of Molecular Sciences
|
January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Sadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
NPJ Genomic Medicine
|
July 20, 2021
Incidental findings from cancer next generation sequencing panels
Nika Maani, Karen Panabaker, Jeanna M McCuaig, et al.
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of 23
Search research articles
Search
Showing results (81-90 of 228) with videos related to
Sort By:
Page
of 23
Journal of Human Genetics
|
June 3, 2020
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature
Erfan Aref-Eshghi, Jacob D McGee, Victor P Pedro, et al.
Clinical Epigenetics
|
April 29, 2025
Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature
Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, et al.
American Journal of Medical Genetics. Part A
|
December 10, 2020
Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2020
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses
Jorge L Granadillo, Daniel J Wegner, Alexander J Paul, et al.
Genome Biology
|
August 15, 2019
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1
Daniel E Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, et al.
The Journal of Nutrition
|
October 21, 2011
Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring
Alfred Balasa, Amarilis Sanchez-Valle, Bekim Sadikovic, et al.
European Journal of Human Genetics : EJHG
|
October 3, 2025
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
Tinatin Tkemladze, Christopher Campbell, Kakha Bregvadze, et al.
Journal of Human Genetics
|
May 17, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case
Annalisa Paparella, Gabriella Maria Squeo, Eleonora Di Venere, et al.
International Journal of Molecular Sciences
|
January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Sadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.
NPJ Genomic Medicine
|
July 20, 2021
Incidental findings from cancer next generation sequencing panels
Nika Maani, Karen Panabaker, Jeanna M McCuaig, et al.
Page
of 23