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Showing 1–5 of 5 results
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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
- hartmut.engels@ukb.uni-bonn.de
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
- hartmut.engels@uni-bonn.de
- Alma Kuechler
- , Alexander M Zink
- , Thomas Wieland
- , Hermann-Josef Lüdecke
- , Kirsten Cremer
- , Leonardo Salviati
- , Pamela Magini
- , Kimia Najafi
- , Christiane Zweier
- , Johanna Christina Czeschik
- , Stefan Aretz
- , Sabine Endele
- , Federica Tamburrino
- , Claudia Pinato
- , Maurizio Clementi
- , Jasmin Gundlach
- , Carina Maylahn
- , Laura Mazzanti
- , Eva Wohlleber
- , Thomas Schwarzmayr
- , Roxana Kariminejad
- , Avner Schlessinger
- , Dagmar Wieczorek
- , Tim M Strom
- , Gaia Novarino
- & Hartmut Engels
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Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation
- hartmut.engels@ukb.uni-bonn.de
