Jorge Sequeiros
Porto, Portugal
Last Updated: 09/26/2026
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Found 130 publications
Retrotransposition Events Shape the Evolution of the Ataxin-3 Gene Family in Primates.
Journal: Genome biology and evolution
Published: February 20, 2026
FAQs About the Genetic Counseling Profession: Establishment and Growth Around the World.
Journal: Journal of genetic counseling
Published: November 03, 2025
Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.
Journal: Scientific reports
Published: July 04, 2025
Deciphering Spastic Ataxia: Clinical and Genetic Profiles.
Journal: Neurology. Genetics
Published: May 16, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Journal: International journal of molecular sciences
Published: March 11, 2025
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.
Journal: Clinical genetics
Published: October 14, 2024
Addressing family communication in genetic counseling: A scoping review of process studies.
Journal: Journal of genetic counseling
Published: October 11, 2024
Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.
Journal: Cerebellum (London, England)
Published: July 17, 2024
Movement Disorders in Hereditary Cerebellar Ataxia.
Journal: Movement disorders clinical practice
Published: June 10, 2024
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.
Journal: Journal of community genetics
Published: April 23, 2024
"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.
Journal: Journal of community genetics
Published: March 28, 2024
Last Updated: 09/26/2026