Zobrazeno 1 - 10
of 207
pro vyhledávání: '"Anne Munck"'
Autor:
Anne Munck, Kevin W. Southern, Jared Murphy, Karin M. de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 65 (2023)
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Workin
Externí odkaz:
https://doaj.org/article/b5f12209c8cb410c8b86b75d266ab8ce
Autor:
Meredith C. Fidler, Alexandra Buckley, James C. Sullivan, Marvin Statia, Sylvia F. Boj, Robert G. J. Vries, Anne Munck, Mark Higgins, Matteo Moretto Zita, Paul Negulescu, Fredrick vanGoor, Kris De Boeck
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 2, Pp 656-663 (2021)
In previous work, participants with a G970R mutation in cystic fibrosis transmembrane conductance regulator (CFTR) (c.2908G>C) had numerically lower sweat chloride responses during ivacaftor treatment than participants with other CFTR gating mutation
Externí odkaz:
https://doaj.org/article/da813cb3faa54b46b8f5eeca152ec374
Autor:
Anne Munck
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 19 (2020)
An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-rel
Externí odkaz:
https://doaj.org/article/0d63484d966a42e2a0bbb810170ce504
Akademický článek
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Autor:
Anne Munck, Daria O Berger, Kevin W Southern, Carla Carducci, Karin M de Winter-de Groot, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben, Sabine Renner, Max Zeyda, Elke de Wachter, Luc Regal, Felix Votava, Andrea Holubova, Marianne Skov, Tessa Morgan, Paul Bregeaut, Loretta O'Grady, Ines Bucci, Stefano Pantano, Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva SL Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart
European CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner , Max Zeyda , Elke de Wachter , Luc Regal , Felix Votava, Andrea Holubova, Marianne Skov , Tessa Morgan, Paul Bregeaut , Loretta O'Grady, Ines Bucci , Stefano Pantano , S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1280e533a22801c54cb7ddf56c1b22d
https://hdl.handle.net/11424/290369
https://hdl.handle.net/11424/290369
Autor:
Grinsted, Aslak, Rathmann, Nicholas Mossor, Mottram, Ruth, Solgaard, Anne Munck, Mathiesen, Joachim, Hvidberg, Christine Schøtt
Publikováno v:
EGUsphere; 9/19/2023, p1-15, 15p
Autor:
Rasmus Bahbah Nielsen, Louise Sandberg Sørensen, Sebastian Bjerregaard Simonsen, Natalia Havelund Andersen, Anne Munck Solgaard, Nanna Bjørnholt Karlsson, Jade Bowling, Amber Leeson, Jenny Maddalena, Malcolm McMillan, Noel Gourmelen, Alex Horton, Birgit Wessel
Subglacial lakes may form beneath ice sheets and ice caps, given the availability of water and appropriate bedrock and surface topography to capture the water. On a regional scale, these lakes can modulate the freshwater output to the ocean by acting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e10f345e90663e71844d4781d562a7d
https://doi.org/10.5194/tc-2022-263
https://doi.org/10.5194/tc-2022-263
Autor:
Jürg Barben, Nataliya Kashirskaya, Anne Munck, Kevin W Southern, Olaf Sommerburg, Barry Linnane, Dorota Sands, Silvia Gartner, Sarah Mayell, Marijke Proesmans, Carlo Castellani, Karin M. de Winter-de Groot
Publikováno v:
Journal of Cystic Fibrosis. 20:820-823
Autor:
Dominique, Hubert, Christophe, Marguet, Jacques, Benichou, Cynthia, DeSouza, Catherine, Payen-Champenois, Nils, Kinnman, Keval, Chandarana, Anne, Munck, Isabelle, Fajac, Laurent, Mely
Publikováno v:
Pulmonary Therapy
Introduction Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that has demonstrated clinical benefits in phase 3 trials. We report results from a real-world study (BRIO) to assess the effectiveness of ivacaftor in
Publikováno v:
médecine/sciences. 37:457-460