Jorge Basto-Pinto
Porto, Portugal
Last Updated: 09/26/2026
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Found 8 publications
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Journal: American journal of medical genetics. Part A
Published: September 19, 2020
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 23, 2020
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.
Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
Published: August 30, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2019
Genomic imbalances defining novel intellectual disability associated loci.
Journal: Orphanet journal of rare diseases
Published: January 16, 2019
Refractory epilepsy in Norrie disease.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 06, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026