Search filters

List of works by Sheila Castro-Sánchez

Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España

article

Alström syndrome: current perspectives

scientific article (publication date: 2015)

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).

scientific article published on 31 July 2017

Bardet-Biedl syndrome: A rare genetic disease.

scientific article published on June 2013

DNA Methylation and Ciliopathies: a way to be explored.

scientific article

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

scientific article published on 16 June 2015

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

scientific article published on 13 May 2017

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

scientific article

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

article

Performing whole-exome sequencing in Bardet-Bield syndrome.

scientific article

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

scientific article published on 11 August 2017

Paulina is supported by:

About Paulina

Help