Concepedia
Statistics
Publications
16
Citations
482
H-Index
13
Active since
1999
Affiliations
Centro de Genética Clínica(Current)
Centro Hospitalar do Porto
Universidade do Porto
Centre for Biomedical Network Research on Rare Diseases
Hospitais da Universidade de Coimbra
Francisco Laranjeira is an author at Centro de Genética Clínica specializing in genetics, molecular genetics, and life sciences.
Publications per year
1999–2024
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas
G. Isidro, Francisco Laranjeira, Ana Sofia Pires et al. · Human Mutation · 2004 · 96 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 65 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2014 · 58 citations · Full text
Susceptibility to ankylosing spondylitis is independent of the Bw4 and Bw6 epitopes of HLA‐B27 alleles
Segundo González, Jesús Martı́nez-Borra, Francisco Laranjeira et al. · Tissue Antigens · 1999 · 55 citations · Full text
Life Sciences, Genetics, Immunology +17
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo et al. · Molecular Psychiatry · 2022 · 34 citations · Full text
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