Hasil Pencarian - Maria Judit Molnar

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  1. 1
    Case report: The spectrum of SMPD1 pathogenic variants in Hungary

    Case report: The spectrum of SMPD1 pathogenic variants in Hungary oleh Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

    Diterbitkan 2023-06-01
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  2. 2
    Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications

    Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications oleh Peter Balicza, Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C. Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molnar, Maria Judit Molnar

    Diterbitkan 2024-01-01
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  3. 3
    Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”

    Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy” oleh Anikó Gál, Janine H Santos, Mária Judit Molnár, György Hajnóczky

    Diterbitkan 2023-08-01
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  4. 4
    Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine

    Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine oleh Maria Judit Molnar, Idris János Jimoh, Helga Zeke, Ágnes Palásti, Marianna Fedor

    Diterbitkan 2020-04-01
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  5. 5
    Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism – a case report

    Dynamic interaction of genetic risk factors and cocaine abuse in the background of Parkinsonism – a case report oleh Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar

    Diterbitkan 2019-10-01
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  6. 6
    Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies

    Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies oleh Réka Csehi, Zsófia Borbála Dombi, Zsófia Borbála Dombi, Barbara Sebe, Mária Judit Molnár

    Diterbitkan 2022-03-01
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  7. 7
    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations oleh Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll

    Diterbitkan 2024-01-01
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  8. 8
    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment

    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment oleh Maria Judit Molnar, Viktor Molnar, Mariann Fedor, Reka Csehi, Karoly Acsai, Beata Borsos, Zoltan Grosz

    Diterbitkan 2022-02-01
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  9. 9
    A new family with transportinopathy: increased clinical heterogeneity

    A new family with transportinopathy: increased clinical heterogeneity oleh Corrado Angelini, Roberta Marozzo, Elena Pinzan, Valentina Pegoraro, Maria Judit Molnar, Annalaura Torella, Vincenzo Nigro

    Diterbitkan 2019-06-01
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  10. 10
    Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

    Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations oleh Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo, Maria Judit Molnar, György Fekete

    Diterbitkan 2018-07-01
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  11. 11
    The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease

    The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease oleh Dora Csaban, Klara Pentelenyi, Renata Toth-Bencsik, Anett Illes, Zoltan Grosz, Andras Gezsi, Maria Judit Molnar

    Diterbitkan 2021-04-01
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  12. 12
    New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family

    New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family oleh Renata Toth-Bencsik, Peter Balicza, Edina Timea Varga, Andras Lengyel, Gabor Rudas, Aniko Gal, Maria Judit Molnar

    Diterbitkan 2021-06-01
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  13. 13
    The improvement of motor symptoms in Huntington’s disease during cariprazine treatment

    The improvement of motor symptoms in Huntington’s disease during cariprazine treatment oleh Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth, Maria Judit Molnar

    Diterbitkan 2023-12-01
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  14. 14
    Broadening the phenotype of the TWNK gene associated Perrault syndrome

    Broadening the phenotype of the TWNK gene associated Perrault syndrome oleh Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar

    Diterbitkan 2019-12-01
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  15. 15
    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

    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, Improvin... oleh Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar

    Diterbitkan 2019-10-01
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  16. 16
    Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

    Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients oleh Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár

    Diterbitkan 2019-05-01
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  17. 17
    Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

    Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion oleh Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár

    Diterbitkan 2018-02-01
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  18. 18
    NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

    NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement oleh Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, László Vécsei, Mária Judit Molnár

    Diterbitkan 2018-08-01
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  19. 19
    Wernicke–Korsakoff syndrome associated with mtDNA disease

    Wernicke–Korsakoff syndrome associated with mtDNA disease oleh Idris Janos Jimoh, Barbara Sebe, Peter Balicza, Mariann Fedor, Ilona Pataky, Gabor Rudas, Aniko Gal, Gabriella Inczedy-Farkas, Gyorgy Nemeth, Maria Judit Molnar

    Diterbitkan 2020-07-01
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  20. 20
    Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel

    Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi met... oleh Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Amir Dori, Georgios Papadimas, Lenka Juříková, Ivan Litvinenko, Ivailo Tournev, Craig Dixon

    Diterbitkan 2024-07-01
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