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Dulce Quelhas

Showing results (1-10 of 44) with videos related to

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Molecular Genetics and Metabolism|September 5, 2024
Treatment of congenital disorders of glycosylation: An overviewDulce Quelhas, Jaak Jaeken
Journal of Inherited Metabolic Disease|December 1, 2022
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?Dulce Quelhas, Jaak Jaeken, Luisa Azevedo
Molecular Genetics and Metabolism|December 14, 2005
Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie cardCélia Nogueira, Dulce Quelhas, Laura Vilarinho
European Journal of Human Genetics : EJHG|December 17, 2009
De Barsy syndrome and ATP6V0A2-CDGElisa Leao-Teles, Dulce Quelhas, Laura Vilarinho, et al.
Comparative and Functional Genomics|August 25, 2012
Multidimensional scaling applied to histogram-based DNA analysisAntónio C Costa, J A Tenreiro Machado, Maria Dulce Quelhas
Genomics|June 16, 2011
Wavelet analysis of human DNAJ A Tenreiro Machado, António C Costa, Maria Dulce Quelhas
Gene|October 18, 2011
Analysis and visualization of chromosome informationJ A Tenreiro Machado, António C Costa, Maria Dulce Quelhas
Genes|November 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative TranscriptsMarisa Encarnação, Isaura Ribeiro, Hugo David, et al.
Clinical Chemistry|November 21, 2007
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic diseaseCelia Pérez-Cerdá, Dulce Quelhas, Ana I Vega, et al.
BMJ Case Reports|April 18, 2014
Congenital disorders of glycosylation with neonatal presentationCatarina Resende, Carmen Carvalho, Artur Alegria, et al.
Pageof 5

Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|September 5, 2024
Treatment of congenital disorders of glycosylation: An overviewDulce Quelhas, Jaak Jaeken
Journal of Inherited Metabolic Disease|December 1, 2022
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?Dulce Quelhas, Jaak Jaeken, Luisa Azevedo
Molecular Genetics and Metabolism|December 14, 2005
Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie cardCélia Nogueira, Dulce Quelhas, Laura Vilarinho
European Journal of Human Genetics : EJHG|December 17, 2009
De Barsy syndrome and ATP6V0A2-CDGElisa Leao-Teles, Dulce Quelhas, Laura Vilarinho, et al.
Comparative and Functional Genomics|August 25, 2012
Multidimensional scaling applied to histogram-based DNA analysisAntónio C Costa, J A Tenreiro Machado, Maria Dulce Quelhas
Genomics|June 16, 2011
Wavelet analysis of human DNAJ A Tenreiro Machado, António C Costa, Maria Dulce Quelhas
Gene|October 18, 2011
Analysis and visualization of chromosome informationJ A Tenreiro Machado, António C Costa, Maria Dulce Quelhas
Genes|November 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative TranscriptsMarisa Encarnação, Isaura Ribeiro, Hugo David, et al.
Clinical Chemistry|November 21, 2007
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic diseaseCelia Pérez-Cerdá, Dulce Quelhas, Ana I Vega, et al.
BMJ Case Reports|April 18, 2014
Congenital disorders of glycosylation with neonatal presentationCatarina Resende, Carmen Carvalho, Artur Alegria, et al.
Pageof 5