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List of works by Neus Roca-Ayats

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

scientific article published on 10 March 2017

Bone development and remodeling in metabolic disorders

scientific article published on 29 April 2019

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density

scientific article published in Scientific Reports

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types

scientific article published on 24 September 2018

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

scientific article published on 14 March 2019

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

scientific article published in May 2017

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

scientific article published on 7 October 2015

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