Πλοήγηση ανά Θέμα "daughter"

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases

Xiromerisiou G., Marogianni C., Dadouli K., Zompola C., Georgouli D., Provatas A., Theodorou A., Zervas P., Nikolaidou C., Stergiou S., Ntellas P., Sokratous M., Stathis P., Paraskevas G.P., Bonakis A., Voumvourakis K., Hadjichristodoulou C., Hadjigeorgiou G.M., Tsivgoulis G. (2020)

Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ...
The greek variant in app gene: The phenotypic spectrum of app mutations

Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)

Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...
Primary biliary cirrhosis: Family stories

Smyk, D.; Cholongitas, E.; Kriese, S.; Rigopoulou, E. I.; Bogdanos, D. P. (2011)

Primary biliary cirrhosis (PBC) is a chronic immune-mediated cholestatic liver disease of unknown aetiology which affects mostly women in middle age. Familial PBC is when PBC affects more than one member of the same family, ...