Publicacións en colaboración con investigadores/as de Hospital Universitario La Paz (8)

2024

  1. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2023

  1. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, Vol. 14, Núm. 6

2020

  1. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

    Human Mutation, Vol. 41, Núm. 1, pp. 265-276

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

2015

  1. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 902-906

2014

  1. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1136-1142

2012

  1. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449