Medizinische Genetik
ISSN: 0936-5931
Publisher: Berufsverband Medizinische Genetik e.V.
Publications (5)
Genetics of CAKUT (2026)
Hilger A, Westland R, Hoefele J
Journal article
Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. (2024)
Rauch A, Reis A
Journal article
Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany (2022)
Hammersen J, Bettendorf M, Bonfig W, Schoenau E, Warncke K, Eckert AJ, Fricke-Otto S, et al.
Journal article
Report 2018 of the Syndrome Day Committee (2019)
Zweier C
Journal article
Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? (2019)
Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E
Journal article, Review article