Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Miriam Nøstvik"'
Autor:
Diane Doummar, Ahmed Waqas, Clement Prouteau, Sarah M. Kateta, Davide Mei, Zeynep Tümer, Tobias B. Haack, Muhammad Umair, Boris Keren, Renzo Guerrini, Felix Boschann, Alban Ziegler, Alexandra Afenjar, Rikke S. Møller, Bitten Schönewolf-Greulich, Ludmilla A. Livshits, Miriam Nøstvik, Joohyun Park, Tiziana Pisano, Magalie Barth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::597b39d8ae8f98556ef5390e323d8940
https://doi.org/10.1111/cge.14051/v2/response1
https://doi.org/10.1111/cge.14051/v2/response1
Autor:
Magalie Barth, Miriam Nøstvik, Alban Ziegler, Zeynep Tümer, Joohyun Park, Alexandra Afenjar, Tiziana Pisano, Muhammad Umair, Bitten Schönewolf-Greulich, Sarah M. Kateta, Boris Keren, Tobias B. Haack, Felix Boschann, Ahmed Waqas, Renzo Guerrini, Clement Prouteau, Davide Mei, Diane Doummar, Rikke S. Møller, Ludmilla A. Livshits
Publikováno v:
Nøstvik, M, Kateta, S M, Schönewolf-Greulich, B, Afenjar, A, Barth, M, Boschann, F, Doummar, D, Haack, T B, Keren, B, Livshits, L A, Mei, D, Park, J, Pisano, T, Prouteau, C, Umair, M, Waqas, A, Ziegler, A, Guerrini, R, Møller, R S & Tümer, Z 2021, ' Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders ', Clinical Genetics, vol. 100, no. 5, pp. 628-633 . https://doi.org/10.1111/cge.14051
Purpose Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c109a6664c363db57297e278b196ff
https://curis.ku.dk/portal/da/publications/clinical-and-molecular-delineation-of-pus3associated-neurodevelopmental-disorders(a1995cdb-a948-4dc9-89a0-974c57aa8680).html
https://curis.ku.dk/portal/da/publications/clinical-and-molecular-delineation-of-pus3associated-neurodevelopmental-disorders(a1995cdb-a948-4dc9-89a0-974c57aa8680).html