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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.
Neurol Genet. 2020 May 11;6(3):e434. doi: 10.1212/NXG.0000000000000434. eCollection 2020 Jun.
Neurol Genet. 2020.
PMID: 32582863
Free PMC article.
Review.
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, Spanaki C, Xiromerisiou G.
Marogianni C, et al. Among authors: georgouli d.
Mol Biol Rep. 2021 Jan;48(1):371-379. doi: 10.1007/s11033-020-06057-3. Epub 2020 Dec 9.
Mol Biol Rep. 2021.
PMID: 33300088
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Fahr's syndrome due to hypoparathyroidism revisited: A case of parkinsonism and a review of all published cases.
Kalampokini S, Georgouli D, Dadouli K, Ntellas P, Ralli S, Valotassiou V, Georgoulias P, Hadjigeorgiou GM, Dardiotis E, Xiromerisiou G.
Kalampokini S, et al. Among authors: georgouli d.
Clin Neurol Neurosurg. 2021 Mar;202:106514. doi: 10.1016/j.clineuro.2021.106514. Epub 2021 Jan 22.
Clin Neurol Neurosurg. 2021.
PMID: 33529967
Review.
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Τhe 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 GM, Xiromerisiou G.
Kalampokini S, et al. Among authors: georgouli d.
Int J Mol Sci. 2021 Nov 16;22(22):12355. doi: 10.3390/ijms222212355.
Int J Mol Sci. 2021.
PMID: 34830236
Free PMC article.
Review.
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A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, Stathis P, Georgouli D, Loules G, Zamanakou M, Hadjigeorgiou GM.
Xiromerisiou G, et al. Among authors: georgouli d.
J Mol Neurosci. 2020 Jan;70(1):131-141. doi: 10.1007/s12031-019-01410-z. Epub 2019 Nov 7.
J Mol Neurosci. 2020.
PMID: 31701440
Review.
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