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Investigative Ophthalmology & Visual Science
|
March 16, 2021
The Long Non-Coding RNA HOTAIR Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy
Saumik Biswas, Biao Feng, Shali Chen, et al.
European Journal of Human Genetics : EJHG
|
January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
The Journal of Molecular Diagnostics : JMD
|
July 1, 2026
Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification
Kajeetha Sarvananthan, Stephanie Santos, Brent Saylor, et al.
Human Mutation
|
July 4, 2019
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, et al.
Journal of Human Genetics
|
October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Aren E Marshall, Yijing Liang, Madeline Couse, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2024
Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Alice Man, Matteo Di Scipio, Haley McConkey, et al.
Epigenetics
|
September 22, 2017
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
European Journal of Medical Genetics
|
February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis
Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
Clinical Epigenetics
|
February 20, 2018
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in <i>KDM5C</i>
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, et al.
Endocrine Reviews
|
February 16, 2026
Epigenetics and Disease Progression in Neuroendocrine Neoplasms
Eduardo C Lobato, Andre F Lafranchi, Felipe Freitas-Castro, et al.
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of 23
Search research articles
Search
Showing results (51-60 of 228) with videos related to
Sort By:
Page
of 23
Investigative Ophthalmology & Visual Science
|
March 16, 2021
The Long Non-Coding RNA HOTAIR Is a Critical Epigenetic Mediator of Angiogenesis in Diabetic Retinopathy
Saumik Biswas, Biao Feng, Shali Chen, et al.
European Journal of Human Genetics : EJHG
|
January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
The Journal of Molecular Diagnostics : JMD
|
July 1, 2026
Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification
Kajeetha Sarvananthan, Stephanie Santos, Brent Saylor, et al.
Human Mutation
|
July 4, 2019
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, et al.
Journal of Human Genetics
|
October 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Aren E Marshall, Yijing Liang, Madeline Couse, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2024
Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Alice Man, Matteo Di Scipio, Haley McConkey, et al.
Epigenetics
|
September 22, 2017
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, et al.
European Journal of Medical Genetics
|
February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosis
Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
Clinical Epigenetics
|
February 20, 2018
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in <i>KDM5C</i>
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, et al.
Endocrine Reviews
|
February 16, 2026
Epigenetics and Disease Progression in Neuroendocrine Neoplasms
Eduardo C Lobato, Andre F Lafranchi, Felipe Freitas-Castro, et al.
Page
of 23