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European Journal of Human Genetics : EJHG
|
February 1, 2019
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
Mariana Moysés-Oliveira, Adriana Di-Battista, Malú Zamariolli, et al.
Human Mutation
|
December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
Olivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
Cell Reports. Medicine
|
August 16, 2023
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease
Ruth Hanssen, Chiara Auwerx, Maarja Jõeloo, et al.
Nature
|
December 6, 2002
Human chromosome 21 gene expression atlas in the mouse
Alexandre Reymond, Valeria Marigo, Murat B Yaylaoglu, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 29, 2003
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes
Roderic Guigo, Emmanouil T Dermitzakis, Pankaj Agarwal, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2022
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
March 14, 2022
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2021
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
Plos One
|
July 14, 2012
The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome
Carmela Fusco, Lucia Micale, Mikhail Egorov, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2022
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
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Search research articles
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Showing results (71-80 of 169) with videos related to
Sort By:
Page
of 17
European Journal of Human Genetics : EJHG
|
February 1, 2019
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
Mariana Moysés-Oliveira, Adriana Di-Battista, Malú Zamariolli, et al.
Human Mutation
|
December 26, 2003
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
Olivier Menzel, Reidunn C J Bekkeheien, Alexandre Reymond, et al.
Cell Reports. Medicine
|
August 16, 2023
Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease
Ruth Hanssen, Chiara Auwerx, Maarja Jõeloo, et al.
Nature
|
December 6, 2002
Human chromosome 21 gene expression atlas in the mouse
Alexandre Reymond, Valeria Marigo, Murat B Yaylaoglu, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 29, 2003
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes
Roderic Guigo, Emmanouil T Dermitzakis, Pankaj Agarwal, et al.
European Journal of Human Genetics : EJHG
|
August 18, 2022
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
March 14, 2022
Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2021
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
Plos One
|
July 14, 2012
The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome
Carmela Fusco, Lucia Micale, Mikhail Egorov, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2022
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'
Francesca Forzano, Olga Antonova, Angus Clarke, et al.
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of 17