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Genes
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July 27, 2024
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023
Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, et al.
Clinical Epigenetics
|
January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
Andrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
American Journal of Human Genetics
|
February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2026
Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, et al.
American Journal of Human Genetics
|
April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Nature Communications
|
November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Thoa Ha, Angela Morgan, Meghan N Bartos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual framework
Michael P Mackley, Julie Richer, Andrea Guerin, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
Genes
|
July 27, 2024
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023
Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, et al.
Clinical Epigenetics
|
January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
Andrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
American Journal of Human Genetics
|
February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2026
Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, et al.
American Journal of Human Genetics
|
April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Nature Communications
|
November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.
American Journal of Medical Genetics. Part A
|
February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Thoa Ha, Angela Morgan, Meghan N Bartos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual framework
Michael P Mackley, Julie Richer, Andrea Guerin, et al.
European Journal of Human Genetics : EJHG
|
July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Page
of 4