Pia E. Pohjola

Turku, Finland

Last Updated: 09/26/2026

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Found 11 publications

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Journal: International journal of audiology

Published: October 18, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine

Published: December 12, 2023

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Journal: Molecular syndromology

Published: June 14, 2023

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Journal: European journal of medical genetics

Published: June 03, 2022

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Journal: Journal of clinical medicine

Published: February 22, 2022

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.

Journal: Clinical case reports

Published: February 16, 2021

Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.

Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.

Journal: Scientific reports

Published: January 11, 2021

Challenges raised by cross-border testing of rare diseases in the European union.

Challenges raised by cross-border testing of rare diseases in the European union.

Journal: European journal of human genetics : EJHG

Published: December 18, 2015

Apolipoprotein E, brain injury and neurodevelopmental outcome of children.

Apolipoprotein E, brain injury and neurodevelopmental outcome of children.

Journal: Genes, brain, and behavior

Published: October 04, 2012

Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

Journal: Genetic testing and molecular biomarkers

Published: August 29, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026