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List of works by Hartmut Engels

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

scientific article published on 26 January 2017

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

scientific article published in September 2003

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

scientific article published in November 2005

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

scientific article published on 17 February 2020

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