Jorge D. Da Silva
Dr. Jacinto Magalhães
Santo Antonio De Felheiros, Portugal
Santo Antonio De Felheiros, Portugal
Last Updated: 09/26/2026
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Found 26 publications
Regulators of Appetite in Mammals - Old and New players.
Journal: Endocrine reviews
Published: January 27, 2026
Ethical and clinical challenges in managing low-penetrance CNVs: insights from Portuguese clinical geneticists.
Journal: Frontiers in genetics
Published: December 01, 2025
Autoimmune features in acquired generalized lipodystrophy and anti-perilipin 1 antibodies: A case report.
Journal: Annales d'endocrinologie
Published: November 27, 2025
FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.
Journal: Journal of human genetics
Published: July 23, 2025
Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3.
Journal: Mechanisms of ageing and development
Published: February 27, 2025
Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 27, 2025
"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Journal: Clinics and research in hepatology and gastroenterology
Published: October 19, 2024
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.
Journal: Journal of medical genetics
Published: May 22, 2024
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Journal: Clinical obesity
Published: August 09, 2023
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Journal: Endocrine, metabolic & immune disorders drug targets
Published: July 12, 2023
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Journal: Pediatric research
Published: May 20, 2023
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 15, 2023
Last Updated: 09/26/2026