Sara Morais

发表

Parkin truncating variants result in a loss-of-function phenotype

I. Alonso, J. Sequeiros, Mariana Santos, 2019, Scientific Reports.

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

I. Alonso, J. Sequeiros, Sara Morais, 2016, ASN neuro.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

Acquired Factor XIII Deficiency in a Patient with Metastatic Lung Cancer

Bernardo Teixeira, P. Fidalgo, I. Peixoto, 2022, Clinical Oncology Research and Reports.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

V. Volpini, G. Pintos-Morell, R. Álvarez, 2017, Advances in experimental medicine and biology.

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD

I. Alonso, J. Sequeiros, Sara Morais, 2016, Neurology: Genetics.

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

J. Tomaz, A. Gonçalves, Rosário Santos, 2022, International journal of molecular sciences.

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2

A. Gonçalves, Rosário Santos, C. Lau, 2021, International Journal of Molecular Sciences.