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Validation of the Hungarian translation of Hospital Anxiety and Depression Scale.
- Published in:
- 2006
- By:
- Publication type:
- journal article
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2671, doi. 10.1007/s10072-023-07213-w
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- Publication type:
- Article
Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 8, p. 1, doi. 10.15252/emmm.202216251
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- Publication type:
- Article
Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study.
- Published in:
- 2021
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- Publication type:
- journal article
Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2617, doi. 10.3390/ijms24032617
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- Publication type:
- Article
Two transgenic mouse models for ß-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 20, p. 3463, doi. 10.1042/BCJ20160594
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- Publication type:
- Article
Mi a szerepe a genetikai tanácsadásnak onkológiai betegségek esetén?
- Published in:
- Orvosképzés, 2021, v. 96, n. 3, p. 615
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- Publication type:
- Article
Mi a szerepe a genetikai tanácsadásnak onkológiai betegségek esetén?
- Published in:
- Orvosképzés, 2021, v. 96, n. 2, p. 615
- By:
- Publication type:
- Article
Új korszak a veleszületett gerincvelõi izomsorvadás terén.
- Published in:
- Gyermekgyógyászat, 2023, v. 74, n. 3, p. 125
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- Publication type:
- Article
Fabry-betegség - diagnosztikai útmutató.
- Published in:
- Gyermekgyógyászat, 2021, v. 72, n. 2, p. 73
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- Publication type:
- Article
Fabry-betegség: terápiás és utánkövetési irányelvek.
- Published in:
- Gyermekgyógyászat, 2021, v. 72, n. 3, p. 131
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- Publication type:
- Article
Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.827744
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- Publication type:
- Article
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2428, doi. 10.1002/ajmg.a.63340
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- Publication type:
- Article
CNTF, COMT, DDR1, DISCI, DRD2, DRD3 és DTNBP1 kandidáns gének vizsgálata szkizofréniában: eredmények a Magyar SCHIZOBANK Konzorcium vizsgálatából.
- Published in:
- Neuropsychopharmacologia Hungarica, 2016, v. 18, n. 4, p. 181
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- Publication type:
- Article
Személyre szabott orvoslás a pszichiátriában – egy régi koncepció új értelmezésben.
- Published in:
- Neuropsychopharmacologia Hungarica, 2012, v. 14, n. 1, p. 2
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- Publication type:
- Article
A gerincvelői izomsorvadás újszülöttkori szűrésének eredményei Magyarországon 2023-ban.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 29, p. 1122, doi. 10.1556/650.2024.33080
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- Publication type:
- Article
Az érzékeny kutatási adatok megosztása a személyre szabott orvoslás gyakorlatában.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 21, p. 811, doi. 10.1556/650.2023.32759
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- Publication type:
- Article
A ritka betegségben szenvedő gyermekek átvezetése a felnőttellátásba.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 51, p. 2021, doi. 10.1556/650.2022.32660
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- Publication type:
- Article
A Magyar Genomikai Egészségtárház az egészséges hosszú élet kutatásának szolgálatában.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2021, v. 162, n. 27, p. 1079, doi. 10.1556/650.2021.32131
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- Publication type:
- Article
Whole mitochondrial genome diversity in two Hungarian populations.
- Published in:
- Molecular Genetics & Genomics, 2018, v. 293, n. 5, p. 1255, doi. 10.1007/s00438-018-1458-x
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- Publication type:
- Article
Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells.
- Published in:
- Scientific Reports, 2016, p. 26700, doi. 10.1038/srep26700
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- Publication type:
- Article
Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-01980-5
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- Publication type:
- Article
The European challenges of funding orphan medicinal products.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2018, v. 275, n. 10, p. 2441, doi. 10.1007/s00405-018-5083-4
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- Publication type:
- Article
Exclusive neuronal expression of SUCLA2 in the human brain.
- Published in:
- Brain Structure & Function, 2015, v. 220, n. 1, p. 135, doi. 10.1007/s00429-013-0643-2
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- Publication type:
- Article
Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2020, v. 161, n. 20, p. 821, doi. 10.1556/650.2020.31724
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- Publication type:
- Article
Halláscsökkenést okozó etiológiai tényezők cochlearis implantáción átesett gyermekekben.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2019, v. 160, n. 21, p. 822, doi. 10.1556/650.2019.31398
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- Publication type:
- Article
A teljesexom-szekvenálás jelentősége a ritka neurológiai betegségek diagnosztikájában - saját tapasztalatok egy ataxiás eset kapcsán.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2018, v. 159, n. 28, p. 1163, doi. 10.1556/650.2018.31049
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- Publication type:
- Article
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00434
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- Publication type:
- Article
Tight co-twin similarity of monozygotic twins for hTERT protein level of T cell subsets, for telomere length and mitochondrial DNA copy number, but not for telomerase activity.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 13, p. 2447, doi. 10.1007/s00018-017-2738-z
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- Publication type:
- Article
A magyar Huntington-kóros betegek és családjaik életminőségének elemzése.
- Published in:
- Nővér, 2023, v. 36, n. 6, p. 25, doi. 10.55608/nover.36.0029
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- Publication type:
- Article
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population.
- Published in:
- Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/9351598
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- Publication type:
- Article
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01807-9
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- Publication type:
- Article
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.
- Published in:
- Behavioral & Brain Functions, 2018, v. 14, p. 1, doi. 10.1186/s12993-018-0135-x
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- Publication type:
- Article
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00335
- By:
- Publication type:
- Article
A spinalis izomatrophia személyre szabott terápiás lehetőségei.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2023, v. 76, n. 3/4, p. 77, doi. 10.18071/isz.76.0077
- By:
- Publication type:
- Article
A BETEGEK ÁLTAL RIPORTÁLT KIMENETI MUTATÓK JELENTÔSÉGE POMPE-KÓRBAN.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 3/4, p. 105, doi. 10.18071/isz.74.0105
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- Publication type:
- Article
A MAGYAR KLINIKAI NEUROGENETIKAI TÁRSASÁG KONSZENZUSAJÁNLÁSA A FELNÔTTKORI SPINALIS IZOMATROPHIA (SMA) KEZELÉSÉHEZ .
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 3/4, p. 79, doi. 10.18071/isz.74.0079
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- Publication type:
- Article
TAPASZTALATAINK POMPE-BETEGSÉGBEN TERHESSÉG ALATT ALKALMAZOTT ENZIMPÓTLÓ KEZELÉSSEL ÉS AZ IRODALOM ÁTTEKINTÉSE.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2020, v. 73, n. 9/10, p. 339, doi. 10.18071/isz.73.0339
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- Publication type:
- Article
A KÉSŐI KEZDETŰ POMPE-KÓRBAN SZENVEDŐK ENZIMPÓTLÓ KEZELÉSÉNEK HOSSZÚ TÁVÚ KÖVETÉSE.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2020, v. 73, n. 5/6, p. 151, doi. 10.18071/isz.73.0151
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- Publication type:
- Article
Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1152, doi. 10.3390/genes12081152
- By:
- Publication type:
- Article
Das Diskursschema der Allegorie: Vorstudien zu einem kognitiv poetischen Allegoriebegriff.
- Published in:
- Argumentum (1787-3606), 2023, n. 19, p. 378, doi. 10.34103/ARGUMENTUM/2023/20
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- Publication type:
- Article
Az allegóriaértelmezés mentális ösvénye.
- Published in:
- Argumentum (1787-3606), 2019, n. 15, p. 54
- By:
- Publication type:
- Article
Az allegóriaértelmezés mentális ösvénye.
- Published in:
- Argumentum (1787-3606), 2018, n. 14, p. 54
- By:
- Publication type:
- Article
Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain.
- Published in:
- Journal of Bioenergetics & Biomembranes, 2015, v. 47, n. 1/2, p. 33, doi. 10.1007/s10863-014-9586-4
- By:
- Publication type:
- Article