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 10:18:312019-04-23 10:49:32A case of X-linked retinoschisis with atypical fundus appearance.
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 09:21:08Charcot-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.jpg5791030Maite Siebelhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngMaite Siebel2019-04-15 14:36:432019-05-17 13:09:29A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
/in Veröffentlichungen /von Maite SiebelTargeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
/in Veröffentlichungen /von Maite SiebelA case of X-linked retinoschisis with atypical fundus appearance.
/in Veröffentlichungen /von Andreas RitterCharcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
/in Veröffentlichungen /von Andreas RitterA new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
/in Veröffentlichungen /von Maite Siebel