Search filters

List of works by Cláudia M B Carvalho

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

scientific article published on 22 August 2018

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form

scientific article published on 05 September 2020

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

Craniofacial phenotypes associated with Robinow syndrome

scientific article published on 25 November 2020

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

scientific article published on 20 June 2017

Extremity anomalies associated with Robinow syndrome

scientific article published on 25 September 2020

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

scientific article

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome

scientific article published on 21 September 2020

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

Paulina is supported by:

About Paulina

Help