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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2025
Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence
Anna Luiza Braga Albuquerque, Maria Inez Dacoregio, Cainã Gonçalves Rodrigues, et al.
AACE Clinical Case Reports
|
April 9, 2025
A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors
Talita Fischer Oliveira, Humberto Batista Ferreira, Luís Henrique Dias Lima, et al.
American Journal of Medical Genetics. Part A
|
September 20, 2025
Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis
Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, et al.
Neurology. Genetics
|
July 3, 2026
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and Meta-Analysis
Breno Bopp Antonello, Fabio Cargnelutti Fontoura, Anna Luiza Braga Albuquerque, et al.
Molecular Vision
|
May 19, 2025
Genetics and phenotypes of <i>RPE65</i> mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil
Sarah Pereira de Freitas Cenachi, Maria Frasson, Virgínia Mares, et al.
Molecular Vision
|
March 23, 2026
Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients
Sarah Pereira de Freitas Cenachi, Maria Frasson, Anna Laura Marques Nascentes, et al.
American Journal of Medical Genetics. Part A
|
June 16, 2025
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis
Anna Luiza Braga Albuquerque, Giovanna Giovacchini Dos Santos, Sara Hadj Sadok, et al.
World Journal of Pediatrics : WJP
|
February 2, 2023
Inherited Fanconi syndrome
Anna Luiza Braga Albuquerque, Rafael Dos Santos Borges, Ana Flávia Conegundes, et al.
International Urology and Nephrology
|
April 26, 2025
Porous perspectives: a comprehensive review of medullary sponge kidney
Bárbara Almeida Camolese, Gustavo Santos Rainato, Isadora Soares Bicalho Garcia, et al.
Frontiers in Genetics
|
May 25, 2023
Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
Pedro Guimarães de Azevedo, Maria de Lourdes Rabelo Guimarães, Anna Luiza Braga Albuquerque, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2025
Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence
Anna Luiza Braga Albuquerque, Maria Inez Dacoregio, Cainã Gonçalves Rodrigues, et al.
AACE Clinical Case Reports
|
April 9, 2025
A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors
Talita Fischer Oliveira, Humberto Batista Ferreira, Luís Henrique Dias Lima, et al.
American Journal of Medical Genetics. Part A
|
September 20, 2025
Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis
Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, et al.
Neurology. Genetics
|
July 3, 2026
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and Meta-Analysis
Breno Bopp Antonello, Fabio Cargnelutti Fontoura, Anna Luiza Braga Albuquerque, et al.
Molecular Vision
|
May 19, 2025
Genetics and phenotypes of <i>RPE65</i> mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil
Sarah Pereira de Freitas Cenachi, Maria Frasson, Virgínia Mares, et al.
Molecular Vision
|
March 23, 2026
Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients
Sarah Pereira de Freitas Cenachi, Maria Frasson, Anna Laura Marques Nascentes, et al.
American Journal of Medical Genetics. Part A
|
June 16, 2025
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis
Anna Luiza Braga Albuquerque, Giovanna Giovacchini Dos Santos, Sara Hadj Sadok, et al.
World Journal of Pediatrics : WJP
|
February 2, 2023
Inherited Fanconi syndrome
Anna Luiza Braga Albuquerque, Rafael Dos Santos Borges, Ana Flávia Conegundes, et al.
International Urology and Nephrology
|
April 26, 2025
Porous perspectives: a comprehensive review of medullary sponge kidney
Bárbara Almeida Camolese, Gustavo Santos Rainato, Isadora Soares Bicalho Garcia, et al.
Frontiers in Genetics
|
May 25, 2023
Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
Pedro Guimarães de Azevedo, Maria de Lourdes Rabelo Guimarães, Anna Luiza Braga Albuquerque, et al.
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