Teresa Vendrell
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 11 publications
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Journal: Journal of medical genetics
Published: November 20, 2020
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Journal: Journal of genetic counseling
Published: June 26, 2020
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Journal: European journal of medical genetics
Published: October 13, 2017
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
Journal: European journal of medical genetics
Published: September 15, 2017
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Journal: European journal of medical genetics
Published: December 29, 2016
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Journal: Cytogenetic and genome research
Published: July 01, 2015
Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Journal: Cytogenetic and genome research
Published: December 15, 2014
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Journal: PloS one
Published: July 05, 2013
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Journal: Pediatric nephrology (Berlin, Germany)
Published: July 01, 2013
Contribution of rare copy number variants to isolated human malformations.
Journal: PloS one
Published: April 18, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026