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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2023
Maier, Esther M. 
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-4954-4901; Mütze, Ulrike; Janzen, Nils; Steuerwald, Ulrike; Nennstiel, Uta; Odenwald, Birgit; Schuhmann, Elfriede; Lotz‐Havla, Amelie S.; Weiss, Katharina J.; Hammersen, Johanna; Weigel, Corina; Thimm, Eva; Grünert, Sarah C.; Hennermann, Julia B.; Freisinger, Peter; Krämer, Johannes; Das, Anibh M.; Illsinger, Sabine; Gramer, Gwendolyn; Fang‐Hoffmann, Junmin; Garbade, Sven F.; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan und Röschinger, Wulf
(2023):
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 6: S. 1043-1062
[PDF, 2MB]
2019
Hohenfellner, Katharina; Bergmann, Carsten; Fleige, Tobias; Janzen, Nils; Burggraf, Siegfried; Olgemoeller, Bernd; Gahl, William A.; Czibere, Ludwig; Froschauer, Sonja; Roeschinger, Wulf; Vill, Katharina; Harms, Erik und Nennstiel, Uta
(2019):
Molecular based newborn screening in Germany: Follow-up for cystinosis.
In: Molecular Genetics and Metabolism Reports, Bd. 21, 100514
Winkler, Christiane; Haupt, Florian; Heigermoser, Martin; Zapardiel-Gonzalo, Jose; Ohli, Jasmin; Faure, Theresa; Kalideri, Evdokia; Hommel, Angela; Delivani, Petrina; Berner, Reinhard; Kordonouri, Olga; Roloff, Frank; Berge, Thekla von dem; Lange, Karin; Oltarzewski, Mariusz; Glab, Ryszard; Szypowska, Agnieszka; Snape, Matthew D.; Vatish, Manu; Todd, John A.; Larsson, Helena E.; Ramelius, Anita; Kordel, Jeanette A.; Casteels, Kristina; Paulus, Jasmin; Ziegler, Anette G.; Bonifacio, Ezio; Guendert, Melanie; Arnolds, Stefanie; Assfalg, Robin; Barz, Corinna; Blasius, Karina; Gezginci, Cigdem; Falk, Cordula; Hasford, Jörg; Hoefelschweiger, Bianca; Hoffmann, Verena; Jolink, Manja; Kwarteng, Nana; Lickert, Ramona; Matzke, Claudia; Niewoehner, Rebecca; Ott, Michaela; Ruile, Peter; Scholz, Marlon; Schuette-Borkovec, Katharina; Taulien, Mira; Wendel, Lorena; Wystub-Lis, Katharina; Gonzalo, Jose Maria Zapardiel; Smeets, Goele; Morobe, Hilde; Van Heyste, Renka; Achten, Sophie; Lariviere, Emma; Houben, Janne; Marcelis, Lionel; Regal, Luc; Ceglarek, Uta; Dietz, Sevina; Fuchs, Yannick; Gemulla, Gita; Gottschalk, Manja; Heinke, Sophie; Karasinsky, Anne; Kowal, Susann; Lander, Fabian; Morgenstern, Robert; Nitzsche, Katharine; Schlee, Bianca; Stopsack, Marina; Weigelt, Marc; Wimberger, Pauline; Zielmann, Marie-Luise; Zubizarreta, Nicole; Biester, Torben; Danne, Thomas; Janzen, Nils; Holtkamp, Ute; Marquardt, Erika; Semler, Kerstin; Achenbach, Peter; Bunk, Melanie; Gavrisan, Anita; Gestrich, Katharina; Graetz, Willi; Heim-Ohmayer, Pascale; Herbst, Melanie; Hirte, Julia; Hofelich, Anna; Kraus, Cornelia; Kriesen, Yvonne; Ramminger, Claudia; Schairer, Jennifer; Wittich, Susanne; Zillmer, Stephanie; Dybkowska, Sylwia; Dzygalo, Katarzyna; Groele, Lidia; Dluzniak-Golaska, Karolina; Owczarek, Dorota; Popko, Katarzyna; Skrobot, Agnieszka; Taczanowska, Anna; Zdunczyk, Beata; Larsson, Helena Elding; Lundgren, Markus; Lernmark, Ake; Agardh, Daniel; Kordel, Jeanette Akerstrom; Aronsson, Carin Andren; Bennet, Rasmus; Brundin, Charlotte; Fors, Annika; Fransson, Lina; Jonsdottir, Berglind; Jonsson, Ida; Mestan, Zeliha; Amboh, Evelyn Tekum; Torn, Carina; Snape, Matthew; Bendor-Samuel, Owen; Bland, James; Choi, Edward; Craik, Rachel; Davis, Kimberly; de la Horra, Arancha; Farooq, Yama; Scudder, Clare; Smith, Ian; Willis, Louise und Wishlade, Tabitha
(2019):
Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.
In: Pediatric Diabetes, Bd. 20, Nr. 6: S. 720-727
2018
Lepori, Vincent; Mühlhause, Franziska; Sewell, Adrian C.; Jagannathan, Vidhya; Janzen, Nils; Rosati, Marco; Sousa, Filipe Miguel Maximiano Alves de; Tschopp, Aurelie; Schüpbach, Gertraud; Matiasek, Kaspar; Tipold, Andrea; Leeb, Tosso und Kornberg, Marion
(2018):
A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.
In: G3-Genes Genomes Genetics, Bd. 8, Nr. 5: S. 1545-1554
[PDF, 1MB]