Argitalpenak (178) ALBERTO FERNANDEZ JAEN argitalpenak

2024

  1. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia

    Brain, Vol. 147, Núm. 6, pp. 1982-1995

  2. Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Frontiers in Cell and Developmental Biology, Vol. 12

  3. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

    American Journal of Human Genetics, Vol. 111, Núm. 6, pp. 1206-1221

  4. Genética del TDAH en la práctica clínica

    Medicina, Vol. 84, pp. 26-30

  5. Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 2, pp. 211-217

2023

  1. 3N: neurociencia, neuropsicología y neurodesarrollo

    Libro de Resúmenes: III Edición de las Jornadas de Investigación en Psicología

  2. Cerebellar cognitive affective syndrome after acute cerebellitis

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. 49-52

  3. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  4. Developmental epileptic encephalopathy in <i>DLG4</i>‐related synaptopathy

    Epilepsia

  5. The impact of ADHD on reading

    Medicina (Argentina), Vol. 83, pp. 22-26

2022

  1. A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

    International Journal of Molecular Sciences, Vol. 23, Núm. 10

  2. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation

    Applied Neuropsychology: Child, Vol. 11, Núm. 4, pp. 921-927

  3. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

  4. Bi-Allelic c.1746G>T; p.Leu582 = Variants in TUBGCP4 in a boy with autism: Clinical data and literature review

    Molecular Syndromology, Vol. 13, Núm. 2, pp. 165-170

  5. Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability

    Small GTPases, Vol. 13, Núm. 1, pp. 48-55

  6. DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems

    Neurologia

  7. Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties

    Current Research in Physiology, Vol. 5, pp. 404-413

  8. Functional and structural deficiencies of Gemin5 variants associated with neurological disorders

    Life Science Alliance, Vol. 5, Núm. 7

  9. GIGYF1 disruption associates with autism and impaired IGF-1R signaling

    Journal of Clinical Investigation, Vol. 132, Núm. 19

  10. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

    Genome research, Vol. 32, Núm. 7, pp. 1242-1253