Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Kimberly Gall"'
Autor:
Kimberly Gall, Julie Hathaway, Victoria Howell, Alicia Scocchia, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertelli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100512- (2023)
Externí odkaz:
https://doaj.org/article/9d7ca44a1e8542b1baab457c055644db
Autor:
Victoria Howell, Johanna Huusko, Manuel Bernal, Allison Faber, Satu Valo, Kimberly Gall, Lotta Koskinen, Tiia Kangas-Kontio, Inka Saarinen, Ville Kytölä, Pauli Siivonen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100534- (2023)
Externí odkaz:
https://doaj.org/article/b0751e18ba6843c0b39d0705ce932bed
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:
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improve
Externí odkaz:
https://doaj.org/article/1b5eb1816ae944fb88155d0665c41bec
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:
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/3e17cc68d8164bccbc8234356c07f083
Autor:
Victoria Howell, Kimberly Gall, Alicia Scocchia, Lotta Koskinen, Inka Saarinen, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Clinical Immunology. 250:109395
Autor:
Johanna Sistonen, Melita Irving, Matti Hero, Tiia Kangas-Kontio, Inka Saarinen, Satu Valo, Alicia Scocchia, Kimberly Gall, Liisa Pelttari, Johanna M. Huusko, Juha Koskenvuo, Jonna Tallila, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120f9fb5257a2aebf5c128f5540b8e6b
http://hdl.handle.net/10138/342319
http://hdl.handle.net/10138/342319
Autor:
Julie Hathaway, Marcos Cicerchia, Johanna Tommiska, Saija Ahonen, Eija Seppala, Alicia Scocchia, Inka Saarinen, Kimberly Gall, Matias Rantanen, Jennifer Schleit, Tiia Kangas-Kontio, Massimiliano Gentile, Pertteli Salmenpera, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine. 24:S225-S226
Autor:
Julie Hathaway, Marcos Cicerchia, Johanna Tommiska, Saija Ahonen, Eija Seppälä, Kimberly Gall, Alicia Scocchia, Inka Saarinen, Matias Rantanen, Jennifer Schleit, Tiia Kangas-Kontio, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine. 24:S224-S225