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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
Science (New York, N.Y.)
|
May 29, 2025
Predicting expression-altering promoter mutations with deep learning
Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, et al.
Nature
|
February 25, 2026
Functional dissection of complex trait variants at single-nucleotide resolution
Layla Siraj, Rodrigo I Castro, Hannah B Dewey, et al.
Nature Genetics
|
October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi, Jeremy McRae, Morad Ansari, et al.
Nature Neuroscience
|
March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature Genetics
|
August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Biorxiv : the Preprint Server for Biology
|
May 19, 2023
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey Ede, et al.
Science (New York, N.Y.)
|
June 1, 2023
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey Ede, et al.
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Search research articles
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Showing results (11-20 of 18) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 18 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
Science (New York, N.Y.)
|
May 29, 2025
Predicting expression-altering promoter mutations with deep learning
Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, et al.
Nature
|
February 25, 2026
Functional dissection of complex trait variants at single-nucleotide resolution
Layla Siraj, Rodrigo I Castro, Hannah B Dewey, et al.
Nature Genetics
|
October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Nadia Akawi, Jeremy McRae, Morad Ansari, et al.
Nature Neuroscience
|
March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature Genetics
|
August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Biorxiv : the Preprint Server for Biology
|
May 19, 2023
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey Ede, et al.
Science (New York, N.Y.)
|
June 1, 2023
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey Ede, et al.
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of 2