Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

D Quelhas

Showing results (1-10 of 12) with videos related to

Pageof 2
Sort By:
Journal of Inherited Metabolic Disease|January 1, 1993
Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese familiesP Jorge, D Quelhas, A Nogueira
Journal of Inherited Metabolic Disease|January 19, 2026
CDG due to Defective Membrane Transporters: UpdateD Quelhas, C R Ferreira, J Jaeken
Bioinformatics (Oxford, England)|March 15, 2011
Histogram-based DNA analysis for the visualization of chromosome, genome and species informationAntónio M Costa, José T Machado, Maria D Quelhas
Annals of Human Genetics|December 15, 2006
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2D Quelhas, R Quental, L Vilarinho, et al.
European Journal of Pediatrics|August 1, 1994
X-linked adrenoleukodystrophy in patients with idiopathic Addison diseaseP Jorge, D Quelhas, P Oliveira, et al.
JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|July 16, 2010
Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defectsC Amaral, E Gallardo, R Rodrigues, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
Molecular Genetics and Metabolism|December 5, 2021
Assessing the effects of PMM2 variants on protein stabilityD Quelhas, J Carneiro, M Lopes-Marques, et al.
JIMD Reports|February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)M L Couce, D E Castiñeiras, J D Moure, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Journal of Inherited Metabolic Disease|January 1, 1993
Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese familiesP Jorge, D Quelhas, A Nogueira
Journal of Inherited Metabolic Disease|January 19, 2026
CDG due to Defective Membrane Transporters: UpdateD Quelhas, C R Ferreira, J Jaeken
Bioinformatics (Oxford, England)|March 15, 2011
Histogram-based DNA analysis for the visualization of chromosome, genome and species informationAntónio M Costa, José T Machado, Maria D Quelhas
Annals of Human Genetics|December 15, 2006
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2D Quelhas, R Quental, L Vilarinho, et al.
European Journal of Pediatrics|August 1, 1994
X-linked adrenoleukodystrophy in patients with idiopathic Addison diseaseP Jorge, D Quelhas, P Oliveira, et al.
JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|July 16, 2010
Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defectsC Amaral, E Gallardo, R Rodrigues, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
Molecular Genetics and Metabolism|December 5, 2021
Assessing the effects of PMM2 variants on protein stabilityD Quelhas, J Carneiro, M Lopes-Marques, et al.
JIMD Reports|February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)M L Couce, D E Castiñeiras, J D Moure, et al.
Pageof 2