Associated Papers
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.
de Vries JM et al.
European Journal of Human Genetics : Ejhg, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.
Ginete C et al.
Genes, 2021
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E et al.
European Journal of Medical Genetics, 0
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