K.M. Nishiguchi

Discipline

Psychologie (1) Economies et finances (1)

Type de document

Articles (6)

Co-auteur

Date

Source

Mot-clé

Retinal (Visual pigment) (6) maladie (5) Patients (5) Patients (5) maladie (5) gène (4) Genes (4) Retinitis pigmentosa (4) Blindness (4) mutation (3) Diseases (3) Families (3) Diseases (3) Mutation (3) puits (2) analyse (2) ADN (2) abords (agglomération) (2) Causative (2) Costs (2) Identification (2) Cases (2) Phenotype (2) Molecular diagnosis (2) Genetic disorders (2) Population (2) Identification (2) Dystrophy (2) DNA (2) Addition (2)

Documents écrit par K.M. Nishiguchi (6) | parle de K.M. Nishiguchi (0)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
D.M. Panneman et al. (2023)
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
K. Nikopoulos et al. (28 juin 2019)
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
S.K. Verbakel et al. (2019)
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
M.A. Saqib et al. (2015)
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
M. Corton et al. (2013)
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
K.M. Nishiguchi et al. (2012)