Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kim Gall"'
Autor:
Julie Hathaway, Johanna Huusko, Marcos Cicerchia, Saija Ahonen, Johanna Tommiska, Kim Gall, Khalida Liaquat, Victoria Howell, Allison Sluyters, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppala, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101483- (2024)
Externí odkaz:
https://doaj.org/article/a822691791e947248e642611c8d63849
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
Autor:
Kim Gall, Tero-Pekka Alastalo, Inka Saarinen, Elina Hirvonen, Emma Mårtensson, Joe Jacher, Hatice Duzkale, Päivi Kokkonen, Johanna Sistonen, Juha Koskenvuo, Lotta L. E. Koskinen, Alicia Scocchia, Zöe Powis
Publikováno v:
Molecular Genetics and Metabolism. 132:S233-S234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ef898615dd39cc0073be6df4d97a17b
https://doi.org/10.1016/s1096-7192(21)00444-3
https://doi.org/10.1016/s1096-7192(21)00444-3
Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
Autor:
Tero-Pekka Alastalo, Tiia Kangas-Kontio, Inka Saarinen, Alicia Scocchia, Johanna Sistonen, Kim Gall, Liisa Pelttari, Juha Koskenvuo
Publikováno v:
Molecular Genetics and Metabolism. 132:S221-S222
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a9c3a116c79c1f94b4759a2748eb37e
https://doi.org/10.1016/s1096-7192(21)00428-5
https://doi.org/10.1016/s1096-7192(21)00428-5
Autor:
Marta Gandía, Tero-Pekka Alastalo, Inka Saarinen, Laura Sarantaus, Hatice Duzkale, Kim Gall, Juha Koskenvuo, Johanna Sistonen, Sari Tuupanen
Publikováno v:
Molecular Genetics and Metabolism. 132:S221
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d61c879f6d9fd9dc25aa313ec1f35ba6
https://doi.org/10.1016/s1096-7192(21)00427-3
https://doi.org/10.1016/s1096-7192(21)00427-3
Autor:
Julie Hathaway, Pertelli Salmenpera, Jennifer Schleit, Tero-Pekka Alastalo, Juha Koskenvuo, Mikko Muona, Johanna Sistonen, Sari Tuupanen, Johanna Tommiska, Inka Saarinen, Massimiliano Gentile, Tiia Kangas-Kontio, Jussi Paananen, Eija H. Seppälä, Sini Weckström, Tiina Heliö, Kim Gall
Publikováno v:
Molecular Genetics and Metabolism. 132:S220
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffe912057c6e6b6b65cb45139095a125
https://doi.org/10.1016/s1096-7192(21)00425-x
https://doi.org/10.1016/s1096-7192(21)00425-x
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71bc73607474aeef6b2742893a3d118a
https://doi.org/10.1016/s1096-7192(21)00171-2
https://doi.org/10.1016/s1096-7192(21)00171-2
Autor:
Linlea Armstrong, Andre Mattman, Michelle Steinraths, Patricia Power, Janet Livingston, Gurdip Hulait, Kim Gall, Dawn Siciliano, Tanya N. Nelson, Denise Pugash, Sylvie Langlois
Publikováno v:
Prenatal Diagnosis. 29:966-974
Objective To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9e0d3fd1e02132c517262a6d767df80
https://doi.org/10.1002/pd.2326
https://doi.org/10.1002/pd.2326
Publikováno v:
American Journal of Medical Genetics Part A. :1257-1262
We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f9b32cf2c2d4b2a40363cf2462d6145
https://doi.org/10.1002/ajmg.a.32827
https://doi.org/10.1002/ajmg.a.32827
Autor:
Sylvie, Langlois, Linlea, Armstrong, Kim, Gall, Gurdip, Hulait, Janet, Livingston, Tanya, Nelson, Patricia, Power, Denise, Pugash, Dawn, Siciliano, Michelle, Steinraths, André, Mattman
Publikováno v:
Prenatal diagnosis. 29(10)
To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fef25b9f1ccaabb5b061834a8329a7e1
https://pubmed.ncbi.nlm.nih.gov/19609942
https://pubmed.ncbi.nlm.nih.gov/19609942