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.
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 08:33:382019-04-23 10:50:09A case of X-linked retinoschisis with atypical fundus appearance.
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 RitterA case of X-linked retinoschisis with atypical fundus appearance.
/in Publications /by Andreas RitterThe Parkinson’s disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4.
/in Publications /by Amelie Adam