https://www.cegat.de/web/wp-content/uploads/2018/03/Publikation-Keyvisual-V2-blank-WEB.jpg10801920Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-11-15 10:03:542018-11-16 08:28:57Neurologic 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.jpg10801920Sarah Hänschhttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSarah Hänsch2018-10-26 10:24:372018-11-08 11:21:27Characterization 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.jpg10801920Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-10-26 10:21:092018-11-09 08:29:39Two 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.jpg10801920Sabrina Geberthttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngSabrina Gebert2018-10-26 08:30:542018-10-31 07:40:15De 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 Publications /by 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 Publications /by 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 Publications /by Sabrina GebertDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
/in Publications /by Sabrina GebertKCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
/in Publications /by Sabrina Gebert