J. Basto

发表

PARK2 presenting as a disabling peripheral axonal neuropathy

J. Domingos, T. Coelho, R. Taipa, 2015, Neurological Sciences.

A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

K. Grzeschik, C. Dias, D. Bornholdt, 2010, Fetal and pediatric pathology.

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine

Luís Santos, Vasco Salgado, P. Tavares, 2017, Neuromuscular Disorders.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

F. Alkuraya, A. Bertoli-Avella, A. A. Tayoun, 2024, medRxiv.