https://www.cegat.de/web/wp-content/uploads/2018/12/Publikations-Keyvisual-V3.jpg10801920Ítalo Bacchiegahttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngÍtalo Bacchiega2020-01-16 17:22:262020-01-16 17:22:26Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
https://www.cegat.de/web/wp-content/uploads/2018/12/Publikations-Keyvisual-V3.jpg10801920Ítalo Bacchiegahttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim.pngÍtalo Bacchiega2020-01-16 16:18:512020-01-22 16:21:30NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
/in Publications /by Ítalo BacchiegaNovel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
/in Publications /by Ítalo BacchiegaA Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
/in Publications /by Alexander BorstNUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
/in Publications /by Ítalo BacchiegaOncogenic KRAS hotspot mutations are rare in IDH-mutant gliomas.
/in Publications /by Ítalo Bacchiega