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Búsqueda de Publicación - Prisma - Unidad de Bibliometría

Publicaciones en la fuente HUMAN MUTATION

Tipo Año Título Fuente
Artículo2019Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemiaHUMAN MUTATION
Artículo2010EYS Is a Major Gene for Rod-cone Dystrophies in FranceHUMAN MUTATION
Artículo2010Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel MutationsHUMAN MUTATION
Artículo2010Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis PigmentosaHUMAN MUTATION
Artículo2008A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)HUMAN MUTATION
Artículo2006Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.HUMAN MUTATION
Artículo2004Human vitamin K dependent GAS6: Gene structure, allelic variation, and association with strokeHUMAN MUTATION
Artículo2004The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitisHUMAN MUTATION
Letter2003The RET C620S mutation causes multiple endocrine neoplaslia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypesHUMAN MUTATION
Artículo2001Cathepsin C gene: First compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutationHUMAN MUTATION
Artículo2001Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.HUMAN MUTATION
Artículo2001Identification of two highly informative STRs (GT15-25) and (GT9-21) within the critical region of RP25HUMAN MUTATION
Artículo2001Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosaHUMAN MUTATION
Artículo2000A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?HUMAN MUTATION
Artículo2000A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy.HUMAN MUTATION
Artículo1999A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.HUMAN MUTATION
Artículo1998Cys 634 mutations in the RET proto oncogene in spanish families affected by MEN 2AHUMAN MUTATION
Artículo1996A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosaHUMAN MUTATION
Artículo1996Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.HUMAN MUTATION
Artículo1992Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotesHUMAN MUTATION