Importância Da Triagem Neonatal Para Atrofia Muscular Espinhal: Implicações Clínicas E Em Saúde Pública
P. Santos, Pollyanna Andreza Ribeiro dos Santos, Mariana Araújo Bezerra Gomes, Lúciana Mota Bispo et autres
0 citationsEditora Pasteur eBooks
Lúciana Mota Bispo
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
8Publications signalées
53Citations signalées
0Affiliations récentes
Domaines associés
Genomic variations and chromosomal abnormalitiesCraniofacial Disorders and TreatmentsEpilepsy research and treatmentMitochondrial Function and PathologyParathyroid Disorders and Treatments
Publications récentes
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou et autres
4 citationsGenetics in Medicine
Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population
Daniela Góis Meneses, Fábia Regina dos Santos, Anne Jardim Botelho, Lúciana Mota Bispo et autres
4 citationsBMC Pediatrics
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion
Ruy Pires de Oliveira-Sobrinho, Lúciana Mota Bispo, Júlia Lôndero Heleno, Fernanda Rocha Rojas Ayala et autres
3 citationsMolecular Syndromology
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandão de Paiva, Katiane Sayão Souza, Jorge Luiz B de Souza et autres
7 citationsBrain Communications
A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype
Mauro Borghi, Leopoldo Muniz da Silva, Lúciana Mota Bispo, Carlos Alberto Longui
3 citationsFrontiers in Pediatrics
Distal deletion at 22q11.2 in a patient with Oculo-auriculo-vertebral Spectrum
Samira Spineli Silva, Lúciana Mota Bispo, Vera Lúcia Gil‐da‐Silva‐Lopes, Társis Paiva Vieira
0 citationsSemina Ciências Biológicas e da Saúde
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review
Samira Spineli‐Silva, Lúciana Mota Bispo, Vera Lúcia Gil‐da‐Silva‐Lopes, Társis Paiva Vieira
32 citationsEuropean Journal of Medical Genetics
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