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Human Molecular Genetics
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Oxford University Press
Homepage URLs
http://hmg.oxfordjournals.org/ |
https://web.archive.org/web/20211105215045/https://academic.oup.com/hmg |
https://web.archive.org/web/20211105215719/https://academic.oup.com/hmg/issue |
Example Publications
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism
Francesca A Veneri, Valeria Prada, Rosa Mastrangelo, Cinzia Ferri, Lucilla Nobbio, Mario Passalacqua, MARIA MILANESI, Francesca Bianchi, Ubaldo Del Carro, Jean-Michel Vallat, Phu Duong, John Svaren
(+3 others)
2022
|
Human Molecular Genetics
doi:10.1093/hmg/ddac170 pmid:35908287
Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms
Latifeh Azizi, Lorena Varela, Paula Turkki, Vasyl V Mykuliak, Sanna Korpela, Teemu O Ihalainen, Joseph Church, Vesa Hytönen, goult bt
2022
|
Human Molecular Genetics
doi:10.1093/hmg/ddac163 pmid:35861643
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation
Teresa R Kee, Jessica L Wehinger, Pamela Espinoza Gonzalez, Eric Nguyen, Kyle C McGill Percy, Sophia A Khan, Dale Chaput, Xinming Wang, Tian Liu, David E Kang, Jung A Woo
2022
|
Human Molecular Genetics
doi:10.1093/hmg/ddac083 pmid:35786718
Functional studies of lung cancer GWAS beyond association
Erping Long, Harsh Patel, Jinyoung Byun, Christopher I Amos, Jiyeon Choi
2022
|
Human Molecular Genetics
doi:10.1093/hmg/ddac140 pmid:35776125
Modelling autosomal dominant optic atrophy associated with <i>OPA1</i> variants in iPSC-derived retinal ganglion cells
Paul E Sladen, Katarina Jovanovic, Rosellina Guarascio, Daniele Ottaviani, Grace Salsbury, Tatiana Novoselova, J Paul Chapple, Patrick Yu-Wai-Man, Michael Cheetham
2022
|
Human Molecular Genetics
doi:10.1093/hmg/ddac128 pmid:35652445
13,255
Known Releases
Preservation Summary [more]
| 8,095 | preserved and accessble (bright) | |
| 5,160 | preserved, inaccessible (dark) | |
| 0 | no known preservation |
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