Marja Hietala
Turku, Finland
Last Updated: 09/26/2026
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Found 20 publications
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.
Journal: American journal of medical genetics. Part A
Published: September 25, 2024
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: November 19, 2023
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
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.
Journal: Journal of medical genetics
Published: January 23, 2021
Wilson's Disease in Finland: A Nationwide Population-Based Study.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 09, 2020
HTT haplogroups in Finnish patients with Huntington disease.
Journal: Neurology. Genetics
Published: February 08, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Journal: JCI insight
Published: September 07, 2018
A 69-year-old woman with Coffin-Siris syndrome.
Journal: American journal of medical genetics. Part A
Published: January 26, 2018
Food allergy in a child with de novo KAT6A mutation.
Journal: Clinical and translational allergy
Published: January 11, 2017
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.
Journal: Neurobiology of aging
Published: September 12, 2016
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Journal: American journal of medical genetics. Part A
Published: August 01, 2016
Last Updated: 09/26/2026