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Psychiatric Genetics
|
August 4, 2021
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB
Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 4, 2021
Clinical trials for genetic diseases in Latin America
Fabiano de Oliveira Poswar, Larissa Pozzebon da Silva, Marina Bauer Zambrano, et al.
International Journal for Equity in Health
|
January 13, 2023
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B
|
February 7, 2012
Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I
Andresa Cardoso Grandini Almeida, Gabriela Pasqualim, Fabiana Q Mayer, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2016
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
Roberto Giugliani, Filippo P Vairo, Mariluce Riegel, et al.
Journal of Medical Case Reports
|
January 26, 2022
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
Isadora Andrade, River Ribeiro, Zumira A Carneiro, et al.
Genetics and Molecular Biology
|
June 7, 2019
Clinical research challenges in rare genetic diseases in Brazil
Luciana Giugliani, Claudia Vanzella, Marina Bauer Zambrano, et al.
Advanced Drug Delivery Reviews
|
November 10, 2022
Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses
Flávia Nathiely Silveira Fachel, Lariane Frâncio, Édina Poletto, et al.
Pharmaceutics
|
November 25, 2023
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. <i>Pharmaceutics</i> 2023, <i>15</i>, 1565
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Pharmaceutics
|
May 27, 2023
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Page
of 49
Search research articles
Search
Showing results (161-170 of 482) with videos related to
Sort By:
Page
of 49
Psychiatric Genetics
|
August 4, 2021
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB
Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 4, 2021
Clinical trials for genetic diseases in Latin America
Fabiano de Oliveira Poswar, Larissa Pozzebon da Silva, Marina Bauer Zambrano, et al.
International Journal for Equity in Health
|
January 13, 2023
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B
|
February 7, 2012
Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I
Andresa Cardoso Grandini Almeida, Gabriela Pasqualim, Fabiana Q Mayer, et al.
Orphanet Journal of Rare Diseases
|
June 11, 2016
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
Roberto Giugliani, Filippo P Vairo, Mariluce Riegel, et al.
Journal of Medical Case Reports
|
January 26, 2022
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
Isadora Andrade, River Ribeiro, Zumira A Carneiro, et al.
Genetics and Molecular Biology
|
June 7, 2019
Clinical research challenges in rare genetic diseases in Brazil
Luciana Giugliani, Claudia Vanzella, Marina Bauer Zambrano, et al.
Advanced Drug Delivery Reviews
|
November 10, 2022
Gene editing strategies to treat lysosomal disorders: The example of mucopolysaccharidoses
Flávia Nathiely Silveira Fachel, Lariane Frâncio, Édina Poletto, et al.
Pharmaceutics
|
November 25, 2023
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. <i>Pharmaceutics</i> 2023, <i>15</i>, 1565
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Pharmaceutics
|
May 27, 2023
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Page
of 49