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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2013
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
Roberto Giugliani, Wuh-Liang Hwu, Anna Tylki-Szymanska, et al.
Genetics and Molecular Biology
|
June 6, 2018
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2011
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases
Ursula Matte, Valeska Lizzi Lagranha, Talita Giacomet de Carvalho, et al.
The Journal of Investigative Dermatology
|
August 24, 2007
Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil
Patricia Ashton-Prolla, Lucio Bakos, Gerson Junqueira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2014
The natural history of MPS I: global perspectives from the MPS I Registry
Michael Beck, Pamela Arn, Roberto Giugliani, et al.
Community Genetics
|
April 14, 2006
Assessment of a pioneer metabolic information service in Brazil
Silvia Brustolin, Carolina Souza, Ana Cristina Puga, et al.
Genetics and Molecular Biology
|
April 26, 2014
RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents
Augusto Rojas-Martínez, Alejandro Giraldo-Ríos, Gerardo Jiménez-Arce, et al.
Brazilian Oral Research
|
August 16, 2012
TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil
Liliane Todeschini de Souza, Thayne Woycinck Kowalski, Ana Paula Vanz, et al.
The Application of Clinical Genetics
|
November 21, 2015
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Filippo Vairo, Andressa Federhen, Guilherme Baldo, et al.
Expert Review of Molecular Diagnostics
|
November 17, 2015
Current molecular genetics strategies for the diagnosis of lysosomal storage disorders
Roberto Giugliani, Ana-Carolina Brusius-Facchin, Gabriela Pasqualim, et al.
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of 49
Search research articles
Search
Showing results (81-90 of 482) with videos related to
Sort By:
Page
of 49
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2013
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
Roberto Giugliani, Wuh-Liang Hwu, Anna Tylki-Szymanska, et al.
Genetics and Molecular Biology
|
June 6, 2018
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2011
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases
Ursula Matte, Valeska Lizzi Lagranha, Talita Giacomet de Carvalho, et al.
The Journal of Investigative Dermatology
|
August 24, 2007
Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil
Patricia Ashton-Prolla, Lucio Bakos, Gerson Junqueira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2014
The natural history of MPS I: global perspectives from the MPS I Registry
Michael Beck, Pamela Arn, Roberto Giugliani, et al.
Community Genetics
|
April 14, 2006
Assessment of a pioneer metabolic information service in Brazil
Silvia Brustolin, Carolina Souza, Ana Cristina Puga, et al.
Genetics and Molecular Biology
|
April 26, 2014
RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents
Augusto Rojas-Martínez, Alejandro Giraldo-Ríos, Gerardo Jiménez-Arce, et al.
Brazilian Oral Research
|
August 16, 2012
TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil
Liliane Todeschini de Souza, Thayne Woycinck Kowalski, Ana Paula Vanz, et al.
The Application of Clinical Genetics
|
November 21, 2015
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Filippo Vairo, Andressa Federhen, Guilherme Baldo, et al.
Expert Review of Molecular Diagnostics
|
November 17, 2015
Current molecular genetics strategies for the diagnosis of lysosomal storage disorders
Roberto Giugliani, Ana-Carolina Brusius-Facchin, Gabriela Pasqualim, et al.
Page
of 49