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Researchers Genetically Decode Rare Disease

Researchers Genetically Decode Rare Disease
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City Of , United Kingdom , Max Delbr , Janine Altm , Berlin Institute Of Health At Charit , Helmholtz Association , Molecular Medicine , Berlin Institute , Genome Medicine , Genomics Platform ,

Scientists genetically decode rare kidney disease

Scientists genetically decode rare kidney disease
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City Of , United Kingdom , Bodo Beck , David Ausserhofer , Max Delbr , Janine Altm , Berlin Institute Of Health At Charit , University Hospital Cologne , Genomics Platform , Berlin Institute , Medical Systems Biology , Nature Methods , Genome Medicine ,

Rare Kidney Disease Is Genetically Decoded

Rare Kidney Disease Is Genetically Decoded
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City Of , United Kingdom , Bodo Beck , Max Delbr , Janine Altm , University Hospital Cologne , Berlin Institute Of Health At Charit , Genomics Platform , Berlin Institute , Medical Systems Biology ,

Long-read sequencing reveals new details of Bartter syndrome type 3

Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail. ....

City Of , United Kingdom , Bodo Beck , Megan Craig , Max Delbr , Janine Altm , Berlin Institute Of Health At Charit , University Hospital Cologne , Genomics Platform , Berlin Institute , Medical Systems Biology , Kidney Disease , Bartter Syndrome , Rare Disease ,