Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jón J. Jónsson"'
Autor:
Ulrika Norén-Nyström, Mette K. Andersen, Gisela Barbany, Vaidas Dirse, Martine Eilert-Olsen, Marie Engvall, Arja Harila-Saari, Mats Heyman, Randi Hovland, Satu Häikiö, Jón J. Jónsson, Ritva Karhu, Eigil Kjeldsen, Anna Norberg, Birgitte S. Preiss, Kati Pulkkinen, Petter Quist-Paulsen, Hannele Räsänen, Kjeld Schmiegelow, Anne Seitsonen, Helene Sjögren, Pille Tammur, Bertil Johansson
Publikováno v:
HemaSphere, Vol 7, Iss 5, p e883 (2023)
Externí odkaz:
https://doaj.org/article/951b6b369c904fbc872a2daa70a62c7f
Autor:
Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 114-121 (2021)
Abstract Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities
Externí odkaz:
https://doaj.org/article/1ff65c103f99415fa77f5c0df535ac9c
Autor:
Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense varia
Externí odkaz:
https://doaj.org/article/b8f84ef077ff486aaff6925f0ff44160