Publications by authors named "Rudolf Funke"

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Somatic mosaicism in -associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke

Front Cell Dev Biol· November 2022

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Trust Your Instinct-Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome.
Ralph Melchior, Rudolf Funke, Bernd Wilken, Andreas Jenke

JPGN Rep· August 2022

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Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Julia Schmidt, Gudrun Schreiber, Janine Altmüller, Holger Thiele, Peter Nürnberg, Rudolf Funke

Eur J Hum Genet· February 2022

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Aplasia cutis congenita in a CDC42-related developmental phenotype.
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, Silke Kaulfuß, Bernd Wollnik

Am J Med Genet A· March 2021

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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Roser Ufartes, Hanna Berger, Katharina Till, Gabriela Salinas, Marc Sturm, Rudolf Funke

Hum Genet· November 2020

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A Novel Mutation in Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Christiane M Neuhofer, Rudolf Funke, Bernd Wilken, Alexej Knaus, Janine Altmüller

Mol Syndromol· February 2020

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

Mol Cytogenet· December 2018

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A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken, Rudolf Funke

Am J Med Genet A· October 2013

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Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
Silke Pauli, Thomas Schmidt, Rudolf Funke, Barbara Zoll, Peter Burfeind

Eur J Med Genet· November 2012

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