Publikationen (44) Publikationen von Maria Juliana Ballesta Martinez

2024

  1. Adult syndromology: Challenges, opportunities and perspectives Illustrated by the description of four adults with Costello syndrome

    Medizinische Genetik, Vol. 36, Núm. 2, pp. 95-102

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

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

  3. Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene

    Revista de Neurologia, Vol. 79, Núm. 3, pp. 95-97

2023

  1. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

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

    Genes, Vol. 14, Núm. 6

  3. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2022

  1. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases

    Anales de Pediatria, Vol. 96, Núm. 3, pp. 253-255

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  5. Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study

    Anales de Pediatria, Vol. 95, Núm. 6, pp. 448-458

2020

  1. Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study

    Anales de Pediatria, Vol. 92, Núm. 4, pp. 200-207

  2. First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene

    Anales de Pediatria, Vol. 92, Núm. 3, pp. 169-171

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

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

2019

  1. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  3. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

    Human Genetics, Vol. 138, Núm. 8-9, pp. 1027-1042

  4. Síndrome de depleción de ADN mitocondrial tipo 13: un caso con un inicio poco común

    Revista de Neurologia

2018

  1. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

    Kidney International, Vol. 94, Núm. 2, pp. 363-371