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Zeitschriftenartikel
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]
Dehmel, Stefan; Weiss, Katharina J.; El-Merhie, Natalia; Callegari, Jens; Konrad, Birte; Mutze, Kathrin; Eickelberg, Oliver; Konigshoff, Melanie und Krauss-Etschmann, Susanne
(2022):
microRNA Expression Profile of Purified Alveolar Epithelial Type II Cells.
In: Genes, Bd. 13, Nr. 8, 1420
Schiergens, Katharina A.; Weiss, Katharina J.; Roeschinger, Wulf; Lotz-Havla, Amelie S.; Schmitt, Joachim; Dalla Pozza, Robert; Ulrich, Sarah; Odenwald, Birgit; Kreuder, Joachim und Maier, Esther M.
(2021):
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 1/2 years of experience.
In: Molecular Genetics and Metabolism Reports, Bd. 28, 100776
Weiss, Katharina J.; Roeschinger, Wulf; Blessing, Holger; Lotz-Havla, Amelie S.; Schiergens, Katharina A. und Maier, Esther M.
(2020):
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
In: Annals of Nutrition and Metabolism, Bd. 76, Nr. 4: S. 268-276