R. Oliveira

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

J. Clayton-Smith, S. Price, C. Kubisch, 2015, American journal of medical genetics. Part A.

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

A. Zacharia, M. Guipponi, M. Kurian, 2020, American journal of medical genetics. Part A.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant

A. Rocha-Sousa, F. Falcão-Reis, A. Grangeia, 2021, European journal of ophthalmology.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

J. Clayton-Smith, M. Tassabehji, W. Newman, 2015, European journal of medical genetics.

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

A. Grangeia, Teresa Bernardo, J. Rosmaninho-Salgado, 2019, Hormone Research in Paediatrics.

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

S. Seixas, S. Castedo, Carla Oliveira, 2021, Cancers.

12q21.2q22 deletion: A new patient

M. Venâncio, J. Saraiva, J. Melo, 2015, American journal of medical genetics. Part A.

Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.

C. Morton, Joana Fino, D. David, 2023, Gene.