Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kirsi Alakurtti"'
Autor:
Kim Gall, Julie Hathaway, Lotta Koskinen, Kirsi Alakurtti, Äsa Hagström, Monica Segura, Heli Kuisma, Eija Seppala, Janica Djupsjöbacka, Mikko Muona, Tuuli Pietila, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101528- (2024)
Externí odkaz:
https://doaj.org/article/601aee9ca70a427c8ab15984647b8e13
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
RAB23 is a small GTPase which functions at the plasma membrane to regulate growth factor signaling. Mutations in RAB23 cause Carpenter syndrome, a condition that affects normal organogenesis and patterning. In this study, we investigate the role of R
Externí odkaz:
https://doaj.org/article/b05f7e95eb1c48019030e14983640f51
Autor:
Alicia Scocchia, Allison Sluyters, Margarita Andreevskaya, Kirsi Alakurtti, Paivi Kokkonen, Kimberly Gall, Julie Hathaway, Victoria Howell, Lotta Koskinen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100601- (2023)
Externí odkaz:
https://doaj.org/article/6acd534a99e64627bf0955bab58b14f3
Autor:
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (
Externí odkaz:
https://doaj.org/article/0f7f4798607340f6af812a41cc79a33b
Autor:
Lotta L. E. Koskinen, Emanuela Izzo, Eija H. Seppälä, Tero-Pekka Alastalo, Kirsi Alakurtti, Kimberly Gall, Akashdeep Singh, Juha Koskenvuo
Publikováno v:
Molecular Genetics and Metabolism. 132:S100-S101
Autor:
Emanuela Izzo, Samuel Myllykangas, Inka Saarinen, Kimberly Gall, Kirsi Alakurtti, Lotta L. E. Koskinen, Tero-Pekka Alastalo, Eija H. Seppälä, Akashdeep Singh, Juha Koskenvuo
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
PLoS ONE
PLoS ONE
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (
Autor:
Kirsi Alakurtti, Eija H. Seppälä, Lotta L. E. Koskinen, Khalida Liaquat, Tero-Pekka Alastalo, Juha Koskenvuo, Akashdeep Singh, Kim Gall, Emmanuela Izzo
Publikováno v:
Molecular Genetics and Metabolism. 132:S59
Autor:
Lotta L. E. Koskinen, Emanuela Izzo, Kirsi Alakurtti, Eija H. Seppälä, Tero-Pekka Alastalo, Kimberly Gall, Juha Koskenvuo
Publikováno v:
Molecular Genetics and Metabolism. 129:S80
Autor:
Mervi Kuronen, Saara Tegelberg, Laura Huopaniemi, Antti P. Aalto, Nina Aula, Paula Hakala, Roberto Michellucci, Kirsi Alakurtti, Anna-Elina Lehesjoki, Tarja Joensuu, Kai Eriksson
Publikováno v:
European Journal of Human Genetics. 15:185-193
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. An unstable expansion
Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in which premature fusion of calvarial suture (craniosynostosis) is an i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea4680358ee8e823986ddbbb6d7f3090
https://europepmc.org/articles/PMC3375564/
https://europepmc.org/articles/PMC3375564/