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Number of items: 6.

A

Azizi, Latifeh, Varela, Lorena, Turkki, Paula, Mykuliak, Vasyl V, Korpela, Sanna, Ihalainen, Teemu O, Church, Joseph, Hytönen, Vesa P, Goult, Benjamin T (2022) Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms. Human Molecular Genetics, 31 (24). pp. 4159-4172. ISSN 0964-6906. (doi:10.1093/hmg/ddac163) (KAR id:96115)

D

Deery, Evelyne, Vithana, Eranga N., Newbold, Richard J., Gallon, Victoria A., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M., Wilkie, Susan E. (2002) Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Human Molecular Genetics, 11 (25). pp. 3209-3219. ISSN 0964-6906. (doi:10.1093/hmg/11.25.3209) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:11061)

F

Fernandes, Maria, Wan, Cen, Tacutu, Robi, Barardo, Diogo, Rajput, Ashish, Wang, Jingwei, Thoppil, Harikrishnan, Thornton, Daniel, Yang, Chenhao, Freitas, Alex A., and others. (2016) Systematic analysis of the gerontome reveals links between aging and age-related diseases. Human Molecular Genetics, 25 (21). pp. 4804-4818. ISSN 0964-6906. (doi:10.1093/hmg/ddw307) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:60842)

R

Racca, Alice W., Beck, Anita E., McMillin, Margaret J., Korte, F. Steven, Bamshad, Michael J., Regnier, Michael (2015) The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Human Molecular Genetics, 24 (12). pp. 3348-3358. ISSN 0964-6906. E-ISSN 1460-2083. (doi:10.1093/hmg/ddv084) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:53684)

W

Warren, Madhuri, Lord, Christopher J., Masabanda, Julio S., Griffin, Darren K., Ashworth, Alan (2003) Phenotypic effects of heterozygosity for a BRCA2 mutation. Human Molecular Genetics, 12 (20). pp. 2645-2656. ISSN 0964-6906. (doi:10.1093/hmg/ddg277) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:12483)

Warren, Madhuri, Smith, Amanda, Partridge, Natalie, Masabanda, Julio S., Griffin, Darren K., Ashworth, Alan (2002) Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations. Human Molecular Genetics, 11 (7). pp. 841-851. ISSN 0964-6906. (doi:10.1093/hmg/11.7.841) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:12474)

This list was generated on Thu Apr 25 23:21:09 2024 BST.