Maria Haanpää
Areas of expertise
Expertese
Expertese
Publications
- Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (2022)
- Genetics in Medicine
(A1 Refereed original research article in a scientific journal) - Natural history of KBG syndrome in a large European cohort (2022)
- Human Molecular Genetics
(A1 Refereed original research article in a scientific journal) - An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility (2021)
- JBMR Plus
(A1 Refereed original research article in a scientific journal) - Geeniohjatun syövän hoidon työryhmä hoitopäätösten apuna : Läntisen syöpäkeskuksen kokemus (2021)
- Duodecim
(D1 Article in a professional journal) - Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe (2021)
- European Journal of Medical Genetics
(A1 Refereed original research article in a scientific journal) - Perinnöllisyyslääkärin osuus syövän geenidiagnostiikassa - kokemukset Tyksistä ja muualta (2021)
- Duodecim
(A2 Refereed review article in a scientific journal ) - Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome (2021)
- Clinical Case Reports
(A1 Refereed original research article in a scientific journal) - Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 (2021)
- Frontiers in Endocrinology
(A1 Refereed original research article in a scientific journal) - Severe ulcerative proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever in a patient with a rare variant of the PSTPIP1 gene (2021)
- Clinical and Experimental Dermatology
(B1 Non-refereed article in a scientific journal) - Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr (2021)
- American Journal of Medical Genetics Part A
(A2 Refereed review article in a scientific journal ) - Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Identification of rare wnt1 osteoporosis patient (2017)
- Journal of Investigative Medicine
(Other publication) - Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome (2017)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults (2016)
- Journal of Bone and Mineral Research
(A1 Refereed original research article in a scientific journal)



