Publicacións en colaboración con investigadores/as de Hospital San Pedro de Alcántara (14)

2024

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

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

2023

  1. Coeliac Disease Case–Control Study: Has the Time Come to Explore beyond Patients at Risk?

    Nutrients, Vol. 15, Núm. 5

2022

  1. Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease

    Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748

  2. Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network

    European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799

2021

  1. Summary of Recommendations and Key Points of the Consensus of Spanish Scientific Societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the Use of Non-Invasive Ventilation and High-Flow Oxygen Therapy with Nasal Cannulas in Adult, Pediatric, and Neonatal Patients With Severe Acute Respiratory Failure

    Archivos de Bronconeumologia, Vol. 57, Núm. 6, pp. 415-427

  2. Summary of recommendations and key points of the consensus of Spanish scientific societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the use of non-invasive ventilation and high-flow oxygen therapy with nasal cannulas in adult, pediatric, and neonatal patients with severe acute respiratory failure

    Medicina Intensiva, Vol. 45, Núm. 5, pp. 298-312

2020

  1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

  2. Predictors of response to exclusive enteral nutrition in newly diagnosed crohn’s disease in children: PRESENCE Study from SEGHNP

    Nutrients, Vol. 12, Núm. 4

  3. Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica

    Frontiers in Pediatrics, Vol. 8

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Changes in body mass index in girls with idiopathic central precocious puberty under gonadotropin-releasing hormone analogue therapy: The Spanish registry

    Hormone Research in Paediatrics, Vol. 86, Núm. 3, pp. 154-160

  2. Vertically transmitted cytomegalovirus infection in newborn preterm infants

    Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490

2008

  1. Probable early-onset group B streptococcal neonatal sepsis: A serious clinical condition related to intrauterine infection

    Archives of Disease in Childhood: Fetal and Neonatal Edition, Vol. 93, Núm. 2