M. Reis-Lima

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

M. Barbosa, G. Soares, A. Superti-Furga, 2011, Clinical genetics.

A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion

M. Augé, E. Lloveras, V. Ventura, 2019, Cytogenetic and Genome Research.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients

M. L. Cardoso, E. Martins, M. Barbosa, 2014, Clinical genetics.

Genomic imbalances defining novel intellectual disability associated loci

F. Duque, G. Oliveira, B. Ylstra, 2019, Orphanet Journal of Rare Diseases.

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

V. Cirigliano, G. Soares, Nuno Maia, 2018, BMC Medical Genetics.

Osteopathia striata with cranial sclerosis owing to WTX gene defect

E. Haan, W. Hul, M. Barbosa, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.