Miriam Aza‐Carmona
0000-0003-4448-9541
Publication & Citation Trends
Publications
0 total
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder OA
Cited by 3
Semantic Scholar
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Cited by 3
Semantic Scholar
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome OA
Cited by 1
Semantic Scholar
Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients OA
Cited by 10
Semantic Scholar
Clinical consequences of BRCA2 hypomorphism OA
Cited by 10
Semantic Scholar
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Cited by 4
Semantic Scholar
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. OA
Cited by 18
Semantic Scholar
Research Topics
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
(9)
Connective tissue disorders research
(9)
DNA Repair Mechanisms
(8)
Genomics and Chromatin Dynamics
(6)
Ubiquitin and proteasome pathways
(6)
Affiliations
Universitat Autònoma de Barcelona
Universidad Nacional Experimental Simón Rodríguez
Hospital Universitario La Paz
Instituto de Salud Carlos III
Hospital de Sant Pau