Maria Dulce da Silva Quelhas
AuthID: R-00H-H5F
21
TITLE: Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LDM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 6, ISSUE: 4
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LDM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 6, ISSUE: 4
22
TITLE: Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
AUTHORS: Eduardo Vieira Neto; Francisco Laranjeira; Dulce Quelhas; Isaura Ribeiro; Alexandre Seabra; Nicole Mineiro; Lilian d M Carvalho; Lúcia Lacerda; Márcia G Ribeiro;
PUBLISHED: 2018, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 6, ISSUE: 4
AUTHORS: Eduardo Vieira Neto; Francisco Laranjeira; Dulce Quelhas; Isaura Ribeiro; Alexandre Seabra; Nicole Mineiro; Lilian d M Carvalho; Lúcia Lacerda; Márcia G Ribeiro;
PUBLISHED: 2018, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 6, ISSUE: 4
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID23
TITLE: Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
AUTHORS: Rujano, MA; Serio, MC; Panasyuk, G; P, Anne; Reunert, J; Rymen, D; Hauser, V; Park, JH; Freisinger, P; Souche, E; Guida, MC; Maier, EM; Wada, Y; Jager, S; Krogan, NJ; Kretz, O; Nobre, S; Garcia, P; Quelhas, D; Bird, TD; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF EXPERIMENTAL MEDICINE, VOLUME: 214, ISSUE: 12
AUTHORS: Rujano, MA; Serio, MC; Panasyuk, G; P, Anne; Reunert, J; Rymen, D; Hauser, V; Park, JH; Freisinger, P; Souche, E; Guida, MC; Maier, EM; Wada, Y; Jager, S; Krogan, NJ; Kretz, O; Nobre, S; Garcia, P; Quelhas, D; Bird, TD; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF EXPERIMENTAL MEDICINE, VOLUME: 214, ISSUE: 12
24
TITLE: Galactose epimerase deficiency: Expanding the phenotype
AUTHORS: Filipa Dias Costa; Sacha Ferdinandusse; Carla Pinto; Andrea Dias; Liesbeth Keldermans; Dulce Quelhas; Gert Matthijs; Petra A Mooijer; Luísa Diogo; Jaak Jaeken; Paula Garcia;
PUBLISHED: 2017, SOURCE: JIMD Reports, VOLUME: 37
AUTHORS: Filipa Dias Costa; Sacha Ferdinandusse; Carla Pinto; Andrea Dias; Liesbeth Keldermans; Dulce Quelhas; Gert Matthijs; Petra A Mooijer; Luísa Diogo; Jaak Jaeken; Paula Garcia;
PUBLISHED: 2017, SOURCE: JIMD Reports, VOLUME: 37
25
TITLE: Cerebrotendinous xanthomatosis: Casuistry of the CHUC metabolic disorders consult and a review of the literature [Xantomatose cerebrotendinosa: Casuística da consulta de doenças metabólicas do CHUC e revisão da literatura]
AUTHORS: Araujo, R; Batista, S; Ribeiro, A; Valongo, C; Quelhas, D; Vilarinho, L; Macario, MC;
PUBLISHED: 2015, SOURCE: Sinapse, VOLUME: 15, ISSUE: 1
AUTHORS: Araujo, R; Batista, S; Ribeiro, A; Valongo, C; Quelhas, D; Vilarinho, L; Macario, MC;
PUBLISHED: 2015, SOURCE: Sinapse, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID26
TITLE: Congenital disorders of glycosylation with neonatal presentation
AUTHORS: Resende, C; Carvalho, C; Alegria, A; Oliveira, D; Quelhas, D; Bandeira, A; Proenca, E;
PUBLISHED: 2014, SOURCE: BMJ Case Reports, VOLUME: 2014, ISSUE: apr16 1
AUTHORS: Resende, C; Carvalho, C; Alegria, A; Oliveira, D; Quelhas, D; Bandeira, A; Proenca, E;
PUBLISHED: 2014, SOURCE: BMJ Case Reports, VOLUME: 2014, ISSUE: apr16 1
27
TITLE: Can Power Laws Help Us Understand Gene and Proteome Information? Full Text
AUTHORS: Tenreiro Machado, JAT ; Antonio C Costa ; Maria Dulce Quelhas;
PUBLISHED: 2013, SOURCE: ADVANCES IN MATHEMATICAL PHYSICS, VOLUME: 2013
AUTHORS: Tenreiro Machado, JAT ; Antonio C Costa ; Maria Dulce Quelhas;
PUBLISHED: 2013, SOURCE: ADVANCES IN MATHEMATICAL PHYSICS, VOLUME: 2013
28
TITLE: Multidimensional Scaling Applied to Histogram-Based DNA Analysis Full Text
AUTHORS: Antonio C Costa ; Tenreiro Machado, JAT ; Maria Dulce Quelhas;
PUBLISHED: 2012, SOURCE: COMPARATIVE AND FUNCTIONAL GENOMICS, VOLUME: 2012
AUTHORS: Antonio C Costa ; Tenreiro Machado, JAT ; Maria Dulce Quelhas;
PUBLISHED: 2012, SOURCE: COMPARATIVE AND FUNCTIONAL GENOMICS, VOLUME: 2012
29
TITLE: Analysis and visualization of chromosome information Full Text
AUTHORS: Tenreiro Machado, JAT ; Antonio C Costa ; Maria Dulce Quelhas;
PUBLISHED: 2012, SOURCE: GENE, VOLUME: 491, ISSUE: 1
AUTHORS: Tenreiro Machado, JAT ; Antonio C Costa ; Maria Dulce Quelhas;
PUBLISHED: 2012, SOURCE: GENE, VOLUME: 491, ISSUE: 1
30
TITLE: ON THE DNA OF ELEVEN MAMMALS Full Text
AUTHORS: TENREIRO T MACHADO; ANTÓNIO C COSTA; MARIA DULCE QUELHAS;
PUBLISHED: 2012, SOURCE: International Journal of Bifurcation and Chaos - Int. J. Bifurcation Chaos, VOLUME: 22, ISSUE: 04
AUTHORS: TENREIRO T MACHADO; ANTÓNIO C COSTA; MARIA DULCE QUELHAS;
PUBLISHED: 2012, SOURCE: International Journal of Bifurcation and Chaos - Int. J. Bifurcation Chaos, VOLUME: 22, ISSUE: 04
