ProfileOfResearchers

Identified 74

TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Goncalves, Mariana; David, Hugo; Matos, Liliana; Encarnacao, Marisa; Alves, Sandra; Coutinho, Maria Francisca;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 4

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WOS

TITLE: Leukocyte Imbalances in Mucopolysaccharidoses Patients
AUTHORS: Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Mondragao Rodrigues, Ines; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patricio; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Leao Teles, Elisa; Giugliani, Roberto; Coutinho, Maria F. F.; Alves, Sandra; Macedo, M. Fatima;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 6

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WOS

TITLE: WHOLE-GENOME SEQUENCING ANALYSIS TO IDENTIFY CANDIDATE HDGC GENETIC MODIFIERS FOR THE CDH1 C.1901 VARIANT Full Text
AUTHORS: Fonseca, Joao; Barbosa Matos, Rita; Ferreira, Marta; Ferreira, Daniel A. G.; Garrido, Luzia; Seixas, Susana; Xavier, Joana M. ; Maia, Ana Teresa ; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
AUTHORS: Encarnacao, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, Sandra;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 10

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TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11

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Scopus

TITLE: Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts Full Text
AUTHORS: Encarnacao, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce ; Alves, Sandra;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 11

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TITLE: A de novo paradigm for male infertility
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; Fleischer K.; D’Hauwers K.W.M.; Schaafsma E.; Donald F Conrad; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; Nagirnaja L.; Nagirnaja L.; Conrad D.F.; Friedrich C.; Kliesch S.; Aston K.I.; Aston K.I.; Riera-Escamilla A.; Krausz C.; Gonzaga-Jauregui C.; Santibanez-Koref M.; Elliott D.J.; Vissers L.E.L.M.; Tüttelmann F.; Ramos L.; Xavier M.J.; van der Heijden G.W.; Veltman J.A.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1

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Scopus