Search Results - Funke, Rudolf

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  1. 1
    Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

    Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 by Schnabel, Franziska, Smogavec, Mateja, Funke, Rudolf, Pauli, Silke, Burfeind, Peter, Bartels, Iris

    Published 2018
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  2. 2
    A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

    A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia by Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke

    Published 2020
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    Familial cleft tongue caused by a unique translation initiation codon variant in TP63

    Familial cleft tongue caused by a unique translation initiation codon variant in TP63 by Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd

    Published 2021
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    De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

    De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome by Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette, Pauli, Silke

    Published 2020
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