Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Harri Arikka"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Publikováno v:
Case Reports in Neurological Medicine, Vol 2024 (2024)
Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of
Externí odkaz:
https://doaj.org/article/5bfc8d0566df465ca8b67a42e9d66d80
Autor:
Markku Partinen, Outi Saarenpää-Heikkilä, Ismo Ilveskoski, Christer Hublin, Miika Linna, Päivi Olsén, Pekka Nokelainen, Reija Alén, Tiina Wallden, Merimaaria Espo, Harri Rusanen, Jan Olme, Heli Sätilä, Harri Arikka, Pekka Kaipainen, Ilkka Julkunen, Turkka Kirjavainen
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33723 (2012)
BackgroundNarcolepsy is a rare neurological sleep disorder especially in children who are younger than 10 years. In the beginning of 2010, an exceptionally large number of Finnish children suffered from an abrupt onset of excessive daytime sleepiness
Externí odkaz:
https://doaj.org/article/a4deaccd0d9c49a89c6aed6f2f59642a
Publikováno v:
Circulation. 122(25)
A 10-month-old girl was referred to our institution for evaluation of recurrent loss of consciousness that occurred for 30 seconds 1 to 3 times a day. The seizures occurred after crying, pain, or frustration. Because of tonic-like seizures before the
Autor:
Harri, Arikka
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 126(16)
Growing pains refer to intermittently recurring pains locating in the lower extremities and causing arousal from sleep mostly in the evening or at night. This is an innocuous, albeit inconvenient ailment. Growing pains affect children at the age of 3