检索结果 - 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 由 Schnabel, Franziska, Smogavec, Mateja, Funke, Rudolf, Pauli, Silke, Burfeind, Peter, Bartels, Iris

    出版 2018
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    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 由 Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke

    出版 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 由 Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd

    出版 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 由 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

    出版 2020
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