Irma Järvelä
Helsingin yliopisto
H-index: 59
Europe-Finland
Top articles of Irma Järvelä
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects | Genetics in Medicine Open | Cherith Somerville Ersa Erkut Marci Schwartz Xin Chen Roozbeh Manshaei | 2024/1/1 |
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria | American Journal of Medical Genetics Part A | Tommi Salokivi Riitta Parkkola Yasmin Rajendran Thashi Bharadwaj Anushree Acharya | 2024/4 |
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | The American Journal of Human Genetics | María del Rocío Pérez Baca Eva Z Jacobs Lies Vantomme Pontus Leblanc Elke Bogaert | 2024/2/26 |
Laktoosin siedon geenimuutoksen tunnistaminen-Geenitesti muutti maitovaivojen diagnostiikkaa | Irma Järvelä | 2024 | |
Heterogenous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort | Brain Communications | Irma Järvelä Ritva Paetau Yasmin Rajendran Anushree Acharya Thashi Bharadwaj | 2024/4/18 |
Musikaalisuuden geenitutkimukset | Irma Järvelä | 2022 | |
Geenitutkimusmenetelmien mahdollisuudet ovat kasvaneet kehitysvammaisuuden syiden tutkimuksissa | Ketju | Irma Järvelä | 2022/12/14 |
The Finnish genetic heritage in 2022–from diagnosis to translational research | Johanna Uusimaa Johannes Kettunen Teppo Varilo Irma Järvelä Jukka Kallijärvi | 2022/10/1 | |
Mistä johtuu silmien erivärisyys? | Tiede | Irma Järvelä | 2022/4/13 |
Identification of microduplications at Xp21. 2 and Xq13. 1 in neurodevelopmental disorders | Molecular Genetics & Genomic Medicine | Hannaleena Kokkonen Auli Siren Tuomo Määttä Magda Kamila Kadlubowska Anushree Acharya | 2021/12 |
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome | Stefan Barakat K Lanko FJ Guzmán-Vega A Jackson R Ramakrishnan | 2021 | |
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland | Human Genetics | Irma Järvelä Tuomo Määttä Anushree Acharya Juha Leppälä Shalini N Jhangiani | 2021/7 |
Music-listening regulates human microRNA expression | Epigenetics | Preethy Sasidharan Nair Pirre Raijas Minna Ahvenainen Anju K Philips Liisa Ukkola-Vuoti | 2021/5/4 |
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population | European Journal of Human Genetics | Daniel L Polla Elisa Rahikkala Michaela K Bode Tuomo Määttä Teppo Varilo | 2020/4 |
Suomalainen tautiperintö laajenee: aivojen paksupoimuisuutta aiheuttava CRADD-geenin mutaatio on rikastunut väestöömme | Irma Järvelä Elisa Rahikkala Michaela K Bode Teppo Varilo Reijo Norio | 2020/1/9 | |
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion | European Journal of Medical Genetics | Renee Carroll Marie Shaw Maria Arvio Alison Gardner Raman Kumar | 2020/10/1 |
Co-Authors
