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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 25, 2023
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, et al.
Nature Communications
|
August 3, 2019
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis
Stephan C Collins, Anna Mikhaleva, Katarina Vrcelj, et al.
Nature Communications
|
September 25, 2021
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
Eleonora Porcu, Marie C Sadler, Kaido Lepik, et al.
Human Molecular Genetics
|
October 24, 2002
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
Michel Guipponi, Grégoire Vuagniaux, Marie Wattenhofer, et al.
Nature Communications
|
July 28, 2017
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers
Aaron F McDaid, Peter K Joshi, Eleonora Porcu, et al.
Nature Communications
|
August 18, 2016
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, et al.
Nature Plants
|
December 7, 2017
Low number of fixed somatic mutations in a long-lived oak tree
Emanuel Schmid-Siegert, Namrata Sarkar, Christian Iseli, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2015
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
Esra Dikoglu, Ali Alfaiz, Maria Gorna, et al.
Nature Methods
|
May 27, 2008
Efficient targeted transcript discovery via array-based normalization of RACE libraries
Sarah Djebali, Philipp Kapranov, Sylvain Foissac, et al.
Cell
|
August 25, 2015
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans
Sebastian M Waszak, Olivier Delaneau, Andreas R Gschwind, et al.
Page
of 17
Search research articles
Search
Showing results (101-110 of 169) with videos related to
Sort By:
Page
of 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 25, 2023
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, et al.
Nature Communications
|
August 3, 2019
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis
Stephan C Collins, Anna Mikhaleva, Katarina Vrcelj, et al.
Nature Communications
|
September 25, 2021
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
Eleonora Porcu, Marie C Sadler, Kaido Lepik, et al.
Human Molecular Genetics
|
October 24, 2002
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
Michel Guipponi, Grégoire Vuagniaux, Marie Wattenhofer, et al.
Nature Communications
|
July 28, 2017
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers
Aaron F McDaid, Peter K Joshi, Eleonora Porcu, et al.
Nature Communications
|
August 18, 2016
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, et al.
Nature Plants
|
December 7, 2017
Low number of fixed somatic mutations in a long-lived oak tree
Emanuel Schmid-Siegert, Namrata Sarkar, Christian Iseli, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2015
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
Esra Dikoglu, Ali Alfaiz, Maria Gorna, et al.
Nature Methods
|
May 27, 2008
Efficient targeted transcript discovery via array-based normalization of RACE libraries
Sarah Djebali, Philipp Kapranov, Sylvain Foissac, et al.
Cell
|
August 25, 2015
Population Variation and Genetic Control of Modular Chromatin Architecture in Humans
Sebastian M Waszak, Olivier Delaneau, Andreas R Gschwind, et al.
Page
of 17