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Nature
|
December 18, 2012
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Elise Ruark, Katie Snape, Peter Humburg, et al.
Genetics in Medicine Open
|
January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Harriet Copeland, Karen J Low, Sarah L Wynn, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics
|
March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
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Search research articles
Search
Showing results (71-80 of 75) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 75 results.
Nature
|
December 18, 2012
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Elise Ruark, Katie Snape, Peter Humburg, et al.
Genetics in Medicine Open
|
January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Harriet Copeland, Karen J Low, Sarah L Wynn, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics
|
March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
Page
of 8