https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Andreas Ritterhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngAndreas Ritter2019-06-17 07:24:322019-06-17 07:58:41PEDIA: prioritization of exome data by image analysis
The diagnostic panels for the disease categories Epilepsy, Metabolic Diseases & Brain Development Disorders (EPI) and Mitochondriopathies (MIT) have been updated in accordance with the latest scientific findings. As part of the update, the gene sets for metabolic diseases (MET) have been integrated into the Panel for Mitochondriopathies (MIT). This new, fourth version of the […]
https://www.cegat.de/web/wp-content/uploads/2018/08/KeyVisual-EPI-WEB.jpg5601920woltershttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngwolters2019-06-07 17:44:262019-06-11 14:36:43Panel Update: Improvement of the Panels for Epilepsy, Metabolic Diseases & Brain Development Disorders and Mitochondriopathies
https://www.cegat.de/web/wp-content/uploads/2018/12/Publikations-Keyvisual-V3.jpg10801920Maite Siebelhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngMaite Siebel2019-05-09 16:25:442019-05-10 13:20:03Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Andreas Ritterhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngAndreas Ritter2019-04-23 09:17:132019-04-29 09:20:06Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
PEDIA: prioritization of exome data by image analysis
/in Publications /by Andreas RitterPanel Update: Improvement of the Panels for Epilepsy, Metabolic Diseases & Brain Development Disorders and Mitochondriopathies
/in Diagnostic Panels /by woltersThe diagnostic panels for the disease categories Epilepsy, Metabolic Diseases & Brain Development Disorders (EPI) and Mitochondriopathies (MIT) have been updated in accordance with the latest scientific findings. As part of the update, the gene sets for metabolic diseases (MET) have been integrated into the Panel for Mitochondriopathies (MIT). This new, fourth version of the […]
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
/in Publications /by Maite SiebelTargeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
/in Publications /by Maite SiebelCharcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
/in Publications /by Andreas Ritter