Rudolf Funke
Kassel, HE, Germany
Last Updated: 09/26/2026
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Found 9 publications
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Journal: Frontiers in cell and developmental biology
Published: August 22, 2022
Trust Your Instinct-Lower Intestinal Bleeding Caused by Ehlers-Danlos-Syndrome.
Journal: JPGN reports
Published: March 04, 2022
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Journal: European journal of human genetics : EJHG
Published: May 05, 2021
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Journal: American journal of medical genetics. Part A
Published: July 17, 2020
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.
Journal: Molecular syndromology
Published: December 03, 2019
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.
Journal: Molecular cytogenetics
Published: July 26, 2018
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Journal: American journal of medical genetics. Part A
Published: January 19, 2013
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
Journal: European journal of medical genetics
Published: October 09, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026