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The Report of p.Val717Phe Mutation in the APP Gene in a Hungarian Family With Alzheimer Disease: A Phenomenological Study. [electronic resource] by
- Zádori, Dénes
- Füvesi, Judit
- Timár, Erzsébet
- Horváth, Emese
- Bencsik, Renáta
- Szépfalusi, Noémi
- Must, Anita
- Vécsei, László
- Molnár, Mária Judit
- Klivényi, Péter
Producer: 20190708
In:
Alzheimer disease and associated disorders vol. 31
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43.
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Broadening the phenotype of the TWNK gene associated Perrault syndrome. [electronic resource] by
- Fekete, Bálint
- Pentelényi, Klára
- Rudas, Gabor
- Gál, Anikó
- Grosz, Zoltán
- Illés, Anett
- Idris, Jimoh
- Csukly, Gabor
- Domonkos, Andor
- Molnar, Maria Judit
Producer: 20200214
In:
BMC medical genetics vol. 20
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NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. [electronic resource] by
- Balicza, Péter
- Grosz, Zoltán
- Molnár, Viktor
- Illés, Anett
- Csabán, Dora
- Gézsi, Andras
- Dézsi, Lívia
- Zádori, Dénes
- Vécsei, László
- Molnár, Mária Judit
Publication details: Frontiers in genetics 2018
In:
Frontiers in genetics vol. 9
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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. [electronic resource] by
- Illés, Anett
- Csabán, Dóra
- Grosz, Zoltán
- Balicza, Péter
- Gézsi, András
- Molnár, Viktor
- Bencsik, Renáta
- Gál, Anikó
- Klivényi, Péter
- Molnar, Maria Judit
Publication details: Frontiers in genetics 2019
In:
Frontiers in genetics vol. 10
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Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion. [electronic resource] by
- Varga, Noémi Ágnes
- Pentelényi, Klára
- Balicza, Péter
- Gézsi, András
- Reményi, Viktória
- Hársfalvi, Vivien
- Bencsik, Renáta
- Illés, Anett
- Prekop, Csilla
- Molnár, Mária Judit
Producer: 20180926
In:
Behavioral and brain functions : BBF vol. 14
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Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients. [electronic resource] by
- Balicza, Péter
- Varga, Noémi Ágnes
- Bolgár, Bence
- Pentelényi, Klára
- Bencsik, Renáta
- Gál, Anikó
- Gézsi, András
- Prekop, Csilla
- Molnár, Viktor
- Molnár, Mária Judit
Publication details: Frontiers in genetics 2019
In:
Frontiers in genetics vol. 10
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[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. [electronic resource] by
- Bereznai, Benjamin
- Trauninger, Anita
- György, Ilona
- Szakszon, Katalin
- Almássy, Zsuzsanna
- Pál, Endre
- Herczegfalvi, Agnes
- Várdi Visy, Katalin
- Illés, Zsolt
- Molnár, Mária Judit
Producer: 20111114
In:
Orvosi hetilap vol. 152
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A novel galectin-1 and interleukin 2 receptor β haplotype is associated with autoimmune myasthenia gravis. [electronic resource] by
- Pál, Zsuzsanna
- Antal, Péter
- Millinghoffer, András
- Hullám, Gábor
- Pálóczi, Krisztina
- Tóth, Sára
- Gabius, Hans-Joachim
- Molnár, Mária Judit
- Falus, András
- Buzás, Edit Irén
Producer: 20101217
In:
Journal of neuroimmunology vol. 229
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Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. [electronic resource] by
- Bock, István
- Németh, Krisztina
- Pentelényi, Klára
- Balicza, Péter
- Balázs, Anna
- Molnár, Mária Judit
- Román, Viktor
- Nagy, József
- Lévay, György
- Kobolák, Julianna
- Dinnyés, András
Producer: 20170126
In:
Gene vol. 595
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Whole mitochondrial genome diversity in two Hungarian populations. [electronic resource] by
- Malyarchuk, Boris
- Derenko, Miroslava
- Denisova, Galina
- Litvinov, Andrey
- Rogalla, Urszula
- Skonieczna, Katarzyna
- Grzybowski, Tomasz
- Pentelényi, Klára
- Guba, Zsuzsanna
- Zeke, Tamás
- Molnár, Mária Judit
Producer: 20181022
In:
Molecular genetics and genomics : MGG vol. 293
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Extranodal marginal zone lymphoma of the CNS arising after a long-standing history of atypical white matter disease. [electronic resource] by
- Schiefer, Ana-Iris
- Vastagh, Ildiko
- Molnar, Maria Judit
- Bereczki, Daniel
- Varallyay, György
- Deak, Beata
- Csomor, Judit
- Turanyi, Eszter
- Kovacs, Gabor G
- Müllauer, Leonhard
Producer: 20120802
In:
Leukemia research vol. 36
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[The way out from crisis--from the closing of the National Psychiatric and Neurologic Institute (OPNI) to Semmelweis University]. [electronic resource] by
- Stubnya, Gusztáv
- Nagy, Zoltán
- Bagdy, György
- Rihmer, Zoltán
- Molnár, Mária Judit
- Harmatta, János
- Kovács, Gábor Géza
- Perczel Forintos, Dóra
- Simon, Lajos
- Bitter, István
Producer: 20091218
In:
Psychiatria Hungarica : A Magyar Pszichiatriai Tarsasag tudomanyos folyoirata vol. 24
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Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients. [electronic resource] by
- Milley, Gyorgy Mate
- Varga, Edina Timea
- Grosz, Zoltan
- Bereznai, Benjamin
- Aranyi, Zsuzsanna
- Boczan, Judit
- Dioszeghy, Peter
- Kálmán, Bernadette
- Gal, Aniko
- Molnar, Maria Judit
Producer: 20180125
In:
Neuromuscular disorders : NMD vol. 26
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Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases. [electronic resource] by
- Remenyi, Viktoria
- Inczedy-Farkas, Gabriella
- Komlosi, Katalin
- Horvath, Rita
- Maasz, Anita
- Janicsek, Ingrid
- Pentelenyi, Klara
- Gal, Aniko
- Karcagi, Veronika
- Melegh, Bela
- Molnar, Maria Judit
Producer: 20160324
In:
Mitochondrial DNA vol. 26
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Mitochondrial DNA mutations and cognition: a case-series report. [electronic resource] by
- Inczedy-Farkas, Gabriella
- Trampush, Joey W
- Perczel Forintos, Dora
- Beech, Danielle
- Andrejkovics, Monika
- Varga, Zsofia
- Remenyi, Viktoria
- Bereznai, Benjamin
- Gal, Aniko
- Molnar, Maria Judit
Producer: 20141230
In:
Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists vol. 29
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[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. [electronic resource] by
- Varga, Viktória Evelin
- Katkó, Mónika
- Harangi, János
- Balogh, István
- Kapás, István
- Madar, László
- Seres, Ildikó
- Molnár, Mária Judit
- Paragh, György
- Kovács, G Gábor
- Harangi, Mariann
Producer: 20140811
In:
Orvosi hetilap vol. 155
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Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort. [electronic resource] by
- Kecskeméti, Nóra
- Szönyi, Magdolna
- Gáborján, Anita
- Küstel, Marianna
- Milley, György Máté
- Süveges, Anna
- Illés, Anett
- Kékesi, Anna
- Tamás, László
- Molnár, Mária Judit
- Szirmai, Ágnes
- Gál, Anikó
Producer: 20181114
In:
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery vol. 275
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59.
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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. [electronic resource] by
- Melicher, Dóra
- Illés, Anett
- Pállinger, Éva
- Kovács, Árpád Ferenc
- Littvay, Levente
- Tárnoki, Ádám Domonkos
- Tárnoki, Dávid László
- Bikov, András
- Molnár, Mária Judit
- Buzás, Edit Irén
- Falus, András
Producer: 20181029
In:
Cellular and molecular life sciences : CMLS vol. 75
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60.
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MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. [electronic resource] by
- Gal, Aniko
- Balicza, Peter
- Weaver, David
- Naghdi, Shamim
- Joseph, Suresh K
- Várnai, Péter
- Gyuris, Tibor
- Horváth, Attila
- Nagy, Laszlo
- Seifert, Erin L
- Molnar, Maria Judit
- Hajnóczky, György
Producer: 20180312
In:
EMBO molecular medicine vol. 9
Availability: No items available.
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