Maria Haanpää
Expertese
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- Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants (2025)
- Acta Ophthalmologica
- Geenitestit auttavat selvittämään kuulovian syyn (2025)
- Lääkärilehti
- Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a GATA4 Pathogenic Variant (2025)
- Pediatric and Developmental Pathology
- Recommendations for bioinformatics in clinical practice (2025)
- Genome Medicine
- Comparison of the ABC and ACMG systems for variant classification (2024)
- European Journal of Human Genetics
- Developmental epileptic encephalopathy in DLG4-related synaptopathy (2024)
- Epilepsia
- Expanding the phenotype of UPF3B-related disorder: Case reports and literature review (2024)
- American Journal of Medical Genetics Part A
- Non-invasiivinen prenataalitesti (NIPT) (2024)
- Kliin lab
- Perinnöllinen haimasyöpäalttius – kansallinen seurantasuositus (2024)
- Lääkärilehti
- Rinnakkaissekventointi diagnostisena työkaluna (2024)
- Kliin lab
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles (2024)
- Genome Medicine
- Jansen de Vries syndrome: Report of four new patients and review of the literature (2023)
- European Journal of Medical Genetics
- PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals (2023)
- Frontiers in cell and developmental biology
- Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease (2023)
- Pediatric and Developmental Pathology
- 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 (2023)
- Molecular syndromology
- Suuren riskin rintasyöpäalttiuden seuranta on geenikohtaista (2023)
- Lääkärilehti
- Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants (2022)
- Journal of Clinical Medicine
- Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings (2022)
- Journal of Inherited Metabolic Disease
- Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome (2022)
- European Journal of Medical Genetics
- Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022)
- Duodecim
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