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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
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, LOURDES DESVIAT
2024
|
Human Molecular Genetics
doi:10.1093/hmg/ddae051 pmcid:PMC11153335
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one <i>SMN2</i> copy
Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu
(+1 others)
2024
|
Human Molecular Genetics
doi:10.1093/hmg/ddae052 pmid:38520738
A loss of function mutation in <i>CLDN25</i> causing Pelizaeus-Merzbacher-like leukodystrophy
Yosuke Hashimoto, Claude Besmond, Nathalie Boddaert, Arnold Munnich, Matthew Campbell
2024
|
Human Molecular Genetics
doi:10.1093/hmg/ddae038 pmcid:PMC11153337
Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians
Maria Jose Ramirez Luzuriaga, Sayuko Kobes, Wen-Chi Hsueh, Leslie J Baier, Robert L Hanson
2024
|
Human Molecular Genetics
doi:10.1093/hmg/ddae030 pmcid:PMC11466845
Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy
Andreia M Nunes, Monique M Ramirez, Enrique Garcia-Collazo, Takako Iida Jones, Peter Jones
2024
|
Human Molecular Genetics
doi:10.1093/hmg/ddae019 pmcid:PMC11070135
13,428
Known Releases
Preservation Summary [more]
8,124 | preserved and accessble (bright) | |
5,239 | preserved, inaccessible (dark) | |
65 | no known preservation |
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