C. Lourenço

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

A. Munnich, D. Lessel, C. Kubisch, 2023, American journal of medical genetics. Part A.

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

E. Martins, E. Rodrigues, L. Vilarinho, 2023, Genes.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

M. Frith, K. Misawa, N. Matsumoto, 2023, Life Science Alliance.

Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023

J. Lima, D. Cintra, F. Fonseca, 2023, Arquivos brasileiros de cardiologia.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.