Hasil Pencarian - Francisco Laranjeira

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  1. 1
    Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)

    Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*) oleh Rita Quelhas da Costa, Francisco Laranjeira, Isaura Duarte Ribeiro, António Filipe Santos, Filipe Nery

    Diterbitkan 2021-07-01
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  2. 2
    A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

    A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications oleh Francisco Laranjeira, Bernardo Neves, Paulo Bernardo, Francisco do Rosário, Otília Fernandes, Evelina Mendonça, Ana Catarino

    Diterbitkan 2024-03-01
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  3. 3
    Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now

    Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now oleh Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes

    Diterbitkan 2017-06-01
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  4. 4
    Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

    Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant oleh Fábio Carneiro, Júlia Duarte, Francisco Laranjeira, Sofia Barbosa-Gouveia, María-Luz Couce, Maria José Fonseca

    Diterbitkan 2021-08-01
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  5. 5
    Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

    Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II oleh Liliana Matos, Vânia Gonçalves, Eugénia Pinto, Francisco Laranjeira, Maria João Prata, Peter Jordan, Lourdes R. Desviat, Belén Pérez, Sandra Alves

    Diterbitkan 2015-12-01
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  6. 6
    MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

    MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance oleh Tiago daSilva Santos, Liliana Fonseca, Sílvia Santos Monteiro, Diana Borges Duarte, Ana Martins Lopes, André Couto de Carvalho, Maria João Oliveira, Teresa Borges, Francisco Laranjeira, María Luz Couce, Maria Helena Cardoso

    Diterbitkan 2022-09-01
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  7. 7
    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients oleh Ana Fernández-Marmiesse, Ana Fernández-Marmiesse, Iria Roca, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza, Margarita Martínez-Atienza, Margarita Martínez-Atienza

    Diterbitkan 2019-11-01
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