Journal of Medical Genetics container_h4x5oiufxvdpxb6kfbjrpd6ble


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<i>GLRA2</i> gene mutations cause high myopia in humans and mice

Qi Tian, Ping Tong, Gong Chen, Meichun Deng, Tian'e Cai, Runyi Tian, Zimin Zhang, Kun Xia, Hu Zhengmao
2022 | Journal of Medical Genetics
doi:10.1136/jmedgenet-2022-108425   pmid:35396272  

A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon

Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L. Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn (+5 others)
2022 | Journal of Medical Genetics
doi:10.1136/jmedgenet-2021-108281   pmid:35318247  

UK recommendations for <i>SDHA</i> germline genetic testing and surveillance in clinical practice

Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise IZATT, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan (+6 others)
2022 | Journal of Medical Genetics
doi:10.1136/jmedgenet-2021-108355   pmid:35260474  

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy

Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias Haack (+2 others)
2022 | Journal of Medical Genetics
doi:10.1136/jmedgenet-2021-108235   pmid:35091433  

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim (+27 others)
2021 | Journal of Medical Genetics
doi:10.1136/jmedgenet-2021-108150   pmid:34952832  
Known Releases
Preservation Summary [more]
11,632 preserved and accessble (bright)
1,605 preserved, inaccessible (dark)
0 no known preservation
Release Types
article-journal 13,007
letter 205
book 9
editorial 9
unknown-type 6
retraction 1
Publication Type  journal
Country Code  gb
ISSN-L?  0022-2593
    Print:  0022-2593
    Electronic:  1468-6244
Wikidata  Q14640281  sim_pubid:8651
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Revision: 8c740998-8bde-4802-9d85-e22419b531ce