https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-11-15 10:03:542018-12-11 13:43:20Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Sarah Hänschhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSarah Hänsch2018-10-26 10:24:372018-11-23 13:33:41Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-10-26 10:21:092018-12-11 13:55:15Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg5791030Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-10-26 08:30:542018-12-11 13:49:53De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
/in Veröffentlichungen /von Sabrina GebertCharacterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
/in Veröffentlichungen /von Sarah HänschTwo patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
/in Veröffentlichungen /von Sabrina GebertDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
/in Veröffentlichungen /von Sabrina GebertKCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
/in Veröffentlichungen /von Sabrina Gebert