Search Results - Walter Bonfig
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Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool by Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis
Published in Frontiers in Genetics (2025-07-01)Get full text
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Characterisation and clinical outcomes in children and adolescents with diabetes according to newly defined subgroups: a cohort study from the DPV registryResearch in context by Katharina Warncke, Alexander Eckert, Ezio Bonifacio, Peter Achenbach, Olga Kordonouri, Thomas Meissner, Ute Ohlenschläger, Walter Bonfig, Anette-G. Ziegler, Reinhard W. Holl
Published in EClinicalMedicine (2023-10-01)Get full text
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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patien... by Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike
Published in Endocrine Connections (2019-01-01)Get full text
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