Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant
Olívia A. Zin, Luiza M. Neves, Fabiana Louise Motta, Daltro Castelar de Almeida Júnior et autres
1 citationGenes
Bruna N. S. Agonigi
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
5Publications signalées
11Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Intraocular Surgery and LensesConnexins and lens biologyHelicobacter pylori-related gastroenterology studiesOphthalmology and Visual Impairment StudiesIron Metabolism and Disorders
Publications récentes
NOVEL NON-CODING VARIANT IN DCLRE1C SEGREGATES WITH DISTINCT SEVERE COMBINED IMMUNODEFICIENCY PHENOTYPES AND HODGKIN LYMPHOMA IN CONSANGUINEOUS SIBLINGS
DPM Almeida, Bárbara Carvalho Santos dos Reis, Roberta Soares Faccion, Daniela P. Cunha et autres
1 citationHematology Transfusion and Cell Therapy
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis
Luiza M. Neves, Márcia Pinto, Olívia A. Zin, Daniela P. Cunha et autres
3 citationsJournal of Community Genetics
The Cost of Hereditary Pediatric Cataract's Clinical and Genetic Diagnosis With Whole Exome Sequencing From a Middle-income Country Perspective: Can We See Any Gains?
Luiza M. Neves, Márcia Pinto, Olívia A. Zin, Daniela P. Cunha et autres
0 citationsResearch Square
Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
Olívia A. Zin, Luiza M. Neves, Daniela P. Cunha, Fabiana Louise Motta et autres
6 citationsInternational Journal of Molecular Sciences
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