Associated Papers
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR
Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.
Jung SH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
29945994 (PubMed )
Supplement: 10780432ccr180345-sup-196274_3_supp_4826357_pjb33v.xlsx › Table_S2
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA et al.
Acta Ophthalmologica, 2015
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK et al.
American Journal of Human Genetics, 2011
Select a paper to view details