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Genes|February 24, 2024
Understanding Hypertriglyceridemia: Integrating Genetic InsightsMara Alves, Francisco Laranjeira, Georgina Correia-da-Silva
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 7, 2018
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese familyLuciano Almendra, Francisco Laranjeira, Ana Fernández-Marmiesse, et al.
GE Portuguese Journal of Gastroenterology|August 18, 2022
Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)Rita Quelhas da Costa, Francisco Laranjeira, Isaura Duarte Ribeiro, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 7, 2016
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/betaMaria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, et al.
Human Immunology|May 29, 2003
Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, AzoresAna Rita Couto, Maria José Peixoto, Francisco Garrett, et al.
Diseases (Basel, Switzerland)|September 22, 2017
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know NowIdalina Beirão, Ana Cabrita, Márcia Torres, et al.
Frontiers in Pediatrics|September 13, 2021
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 VariantFábio Carneiro, Júlia Duarte, Francisco Laranjeira, et al.
European Journal of Case Reports in Internal Medicine|March 8, 2024
A Case of Amyloid Goitre in Heavy Chain Amyloidosis: Diagnostic Challenges and Clinical ImplicationsFrancisco Laranjeira, Bernardo Neves, Paulo Bernardo, et al.
Data in Brief|December 23, 2015
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 IILiliana Matos, Vânia Gonçalves, Eugénia Pinto, et al.
Biochimica Et Biophysica Acta|September 27, 2015
Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IILiliana Matos, Vânia Gonçalves, Eugénia Pinto, et al.
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