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Institut für Humangenetik der Universitätsmedizin Göttingen Institut für Humangenetik der Universitätsmedizin Göttingen
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News

Home » News » Page 2
By KB
In News, Research
Posted 20. July 2022

Identified biallelic variants in tRNA synthetases reveal an emerging associated disease spectrum

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By KB
In News, Research
Posted 17. June 2022

Molecular diagnosis of very rare Proteus syndrome expands phenotype

In a young patient referred to the Institute of Human Genetics at the University Medical Center Göttingen, the clinical suspicion of Proteus syndrome was made and confirmed by molecular genetic [...]

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By KB
In News, Research
Posted 11. February 2022

First evidence of a link between BLM deficiency and overexpression of condensin complex genes

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By KB
In News, Research
Posted 14. December 2021

Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary disorders of the heart. It causes thickening of the heart muscle, which may impair the heart’s function. Several [...]

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By KB
In News, Research
Posted 22. November 2021

Identifying germline variants in susceptibility genes for colorectal cancer

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By KB
In News
Posted 29. October 2021

TP63 variant causes novel phenotype dominated by cleft tongue

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By KB
In News, Research
Posted 22. September 2021

Newly identified biallelic YRDC variant causes developmental disorder with features of premature ageing

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By KB
In News, Research
Posted 1. September 2021

Newly identified biallelic variants in MFSD2A expand clinical spectrum of a very rare microcephaly-associated disease

Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration [...]

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By KB
In News, Research
Posted 13. July 2021

Variants in clustered protocadherin PCDHGC4 identified as genetic cause of novel neurodevelopmental disorder

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By KB
In News, Research
Posted 5. July 2021

Novel homozygous truncating DNM1 variants identified as genetic cause of developmental and epileptic encephalopathy (DEE)

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