Publicaciones en colaboración con investigadores/as de University of Groningen (12)

2020

  1. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

2019

  1. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

    Genetics in Medicine

  2. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Genetics in Medicine, Vol. 21, Núm. 6, pp. 1295-1307

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

  2. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

    Wellcome Open Research, Vol. 3

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2007

  1. Survival and health in liveborn infants with transposition of great arteries - A population-based study

    Congenital Heart Disease, Vol. 2, Núm. 3, pp. 165-169

2006

  1. Erratum: Preventing neural tube defects in Europe: A missed opportunity (Reproductive Toxicology (2005) 20 (393-402) DOI: 10.1016/j.reprotox.2005.03. 009)

    Reproductive Toxicology

  2. The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: A descriptive study

    Pharmacoepidemiology and Drug Safety, Vol. 15, Núm. 9, pp. 675-682

2005

  1. Preventing neural tube defects in Europe: A missed opportunity

    Reproductive Toxicology, Vol. 20, Núm. 3, pp. 393-402

  2. Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999

    Revue d'Epidemiologie et de Sante Publique

2004

  1. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    Prenatal Diagnosis, Vol. 24, Núm. 11, pp. 908-912