Publicacións (67) Publicacións de Esther Vázquez López

2024

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

  1. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  2. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2022

  1. Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection

    Neurologia, Vol. 37, Núm. 2, pp. 122-129

  2. Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders

    Neurology(R) neuroimmunology & neuroinflammation, Vol. 9, Núm. 1

  3. Needs Assessment in Parents of Children Affected by Cancer: A Qualitative Perspective

    Children, Vol. 9, Núm. 12

  4. Síndrome de Joubert y neurofibromatosis de tipo 1

    Revista de Neurologia

2021

  1. Afectación del VI y el VII par craneal secundaria a hipertensión intracraneal idiopática en un paciente pediátrico

    Revista de Neurologia

  2. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

  3. Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome

    Revista de Neurologia, Vol. 73, Núm. 10, pp. 339-344

  4. Subdural and subarachnoid empyema as a complication of an acute meningococcal meningitis

    Archives of Disease in Childhood, Vol. 106, Núm. 2, pp. 188

  5. When Your Child Has Cancer: A Path-Analysis Model to Show the Relationships between Flourishing and Health in Parents of Children with Cancer

    International journal of environmental research and public health, Vol. 18, Núm. 23

2020

  1. Nueva mutación en el gen CASK en un niño con síndrome de microcefalia e hipoplasia pontocerebelosa

    Revista de Neurologia

  2. Prevalence of iron deficiency and related factors in Spanish adolescents

    European Journal of Pediatrics, Vol. 179, Núm. 10, pp. 1587-1595

2019

  1. Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid

    Neurologia

2018

  1. Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal

    European Journal of Paediatric Neurology, Vol. 22, Núm. 6, pp. 1110-1117

  2. Harlequin syndrome in a paediatric patient: A diagnostic challenge

    Neurologia

  3. Quality of life heart-disease children who have suffered from an arterial ischemic stroke

    Anales de Pediatria, Vol. 88, Núm. 3, pp. 122-126

  4. Reference Values of Reticulocyte Hemoglobin Content in Healthy Adolescents

    Journal of Pediatric Hematology/Oncology, Vol. 40, Núm. 4, pp. 298-303

2017

  1. Ischaemic stroke in children with cardiopathy: An epidemiological study

    Neurologia, Vol. 32, Núm. 9, pp. 602-609