Maria Haanpää
Expertese
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- Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022)
- Duodecim
- 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
- Natural history of KBG syndrome in a large European cohort (2022)
- Human Molecular Genetics
- An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility (2021)
- JBMR Plus
- Geeniohjatun syövän hoidon työryhmä hoitopäätösten apuna : Läntisen syöpäkeskuksen kokemus (2021)
- Duodecim
- Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe (2021)
- European Journal of Medical Genetics
- Perinnöllisyyslääkärin osuus syövän geenidiagnostiikassa - kokemukset Tyksistä ja muualta (2021)
- Duodecim
- Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome (2021)
- Clinical Case Reports
- Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 (2021)
- Frontiers in Endocrinology
- 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
- 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
- Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
- Identification of rare wnt1 osteoporosis patient (2017)
- Journal of Investigative Medicine
- Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome (2017)
- American Journal of Medical Genetics Part A
- Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults (2016)
- Journal of Bone and Mineral Research
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