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Genes|June 26, 2026
Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular StandpointDaniel Delgado Seneor, João Paulo Barile, Patrícia Marques Mendes, et al.Journal of the Neurological Sciences|May 27, 2018
Leukodystrophy with disorders of sex development due to WT1 mutationsPaulo Victor Sgobbi Souza, Bruno Mattos Lombardi Badia, Luiz Henrique Libardi Silva, et al.Mitochondrion|July 5, 2019
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencingP V S Souza, Thiago Bortholin, Carlos Alberto Castro Teixeira, et al.Medical Sciences (Basel, Switzerland)|February 21, 2025
Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary HypertensionPaulo de Lima Serrano, Bruno de Mattos Lombardi Badia, João Paulo Barile, et al.Metabolites|February 25, 2025
Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic PorphyriaBruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, et al.Practical Neurology|January 6, 2026
Arthrogryposis as a neuromuscular phenotype: lessons from <i>PIEZO2</i> loss-of-functionDaniel Delgado Seneor, Patrícia Marques Mendes, Fernando Augustus De Paula Barreto Garcia, et al.Current Issues in Molecular Biology|May 24, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset LeukodystrophiesPaulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, et al.Pageof 1