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A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

artículo científico publicado en 2019

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

artículo científico publicado en 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

artículo científico publicado en 2015

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

artículo científico publicado en 2016

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

artículo científico publicado en 2016

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

artículo científico publicado en 2013

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

artículo científico publicado en 2011

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

artículo científico publicado en 2016

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

artículo científico publicado en 2017

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

artículo científico publicado en 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

artículo científico publicado en 2015

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

artículo científico publicado en 2012

VaRank: a simple and powerful tool for ranking genetic variants

artículo científico publicado en 2015

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

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