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JPGN Reports|May 11, 2023
Trust Your Instinct-Lower Intestinal Bleeding Caused by Ehlers-Danlos-SyndromeRalph Melchior, Rudolf Funke, Bernd Wilken, et al.
Molecular Cytogenetics|January 9, 2019
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22Franziska Schnabel, Mateja Smogavec, Rudolf Funke, et al.
American Journal of Medical Genetics. Part A|December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotypeFranziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
European Journal of Medical Genetics|June 9, 2012
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytesSilke Pauli, Thomas Schmidt, Rudolf Funke, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and reviewEva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, et al.
Molecular Syndromology|April 8, 2020
A Novel Mutation in <i>PIGA</i> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
European Journal of Human Genetics : EJHG|October 11, 2021
Familial cleft tongue caused by a unique translation initiation codon variant in TP63Julia Schmidt, Gudrun Schreiber, Janine Altmüller, et al.
Human Genetics|May 20, 2020
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeRoser Ufartes, Hanna Berger, Katharina Till, et al.
Frontiers in Cell and Developmental Biology|December 5, 2022
Somatic mosaicism in <i>STAG2</i>-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrumJulia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, et al.
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