Found: 18
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Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report.
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- Children, 2024, v. 11, n. 7, p. 861, doi. 10.3390/children11070861
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- Article
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2671, doi. 10.1007/s10072-023-07213-w
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- Article
Az első hazai tapasztalatok összegzése kromoszomális microarray-analízis és teljesexom-szekvenálás módszerekkel a magzati diagnosztikában.
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- Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 14, p. 523, doi. 10.1556/650.2024.33028
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- Article
Beszámoló a „Prenatális kromoszomális microarray analízis és teljes exom szekvenálás vizsgálatok helye és szerepe a magyarországi diagnosztikában” szimpóziumról.
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- Magyar Nőorvosok Lapja, 2024, v. 87, n. 2, p. 101
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- Article
Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1815, doi. 10.3390/ijms25031815
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- Article
Evaluation of the effects of Lake Hévíz sulfur thermal water on skin microbiome in plaque psoriasis: An open label, pilot study.
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- International Journal of Biometeorology, 2023, v. 67, n. 4, p. 661, doi. 10.1007/s00484-023-02443-1
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- Article
The Effects of Lakitelek Thermal Water and Tap Water on Skin Microbiome, a Randomized Control Pilot Study.
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- Life (2075-1729), 2023, v. 13, n. 3, p. 746, doi. 10.3390/life13030746
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- Article
Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study.
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- 2021
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- Publication type:
- journal article
A mikrobiom és az infertilitás kérdései.
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- Magyar Nőorvosok Lapja, 2021, v. 84, n. 3, p. 128
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- Publication type:
- Article
Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája.
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- Hungarian Medical Journal / Orvosi Hetilap, 2020, v. 161, n. 20, p. 821, doi. 10.1556/650.2020.31724
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- Article
Broadening the phenotype of the TWNK gene associated Perrault syndrome.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12881-019-0934-4
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- Article
The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01061
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- Article
Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism - a case report.
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- 2019
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- Publication type:
- journal article
Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
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- 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
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.
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- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00335
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- Publication type:
- Article
A teljesexom-szekvenálás jelentősége a ritka neurológiai betegségek diagnosztikájában - saját tapasztalatok egy ataxiás eset kapcsán.
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- Hungarian Medical Journal / Orvosi Hetilap, 2018, v. 159, n. 28, p. 1163, doi. 10.1556/650.2018.31049
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- 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.
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- Cellular & Molecular Life Sciences, 2018, v. 75, n. 13, p. 2447, doi. 10.1007/s00018-017-2738-z
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- Article
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.
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- Behavioral & Brain Functions, 2018, v. 14, p. 1, doi. 10.1186/s12993-018-0135-x
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- Publication type:
- Article