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1دورية أكاديمية
المؤلفون: Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)
مصطلحات موضوعية: basal cell nevus syndrome, Gorlin syndrome, whole-exome sequencing, multiplex ligation-dependent probe amplification, missing heritability, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Congenital chloride diarrhea, SLC26A3 gene, Compound heterozygous state, Novel mutation, Recurrent mutation, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Emese Horváth, János Sikovanyecz, Attila Pál, László Kaiser, Bálint L. Bálint, Póliska Szilárd, Zoltán Kozinszky, János Szabó
المصدر: Case Reports in Medicine, Vol 2010 (2010)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
المؤلفون: Henriett, Pikó, Anett, Illés, Artúr, Beke, Kristóf, Árvai, Sándor, Nagy, Emese, Horváth, Tibor, Elekes, Miklós, Ferenczy, Péter, Mosonyi, Valéria, Lukács, Valéria, Klujber, Olga, Török, Zsuzsanna, Kiss, Erika, Tardy, Zsolt, Tidrenczel, Bálint, Tobiás, Bernadett, Balla, Péter, Lakatos, János, Kósa
المصدر: Magyar Nőorvosok Lapja; Apr2024, Vol. 87 Issue 2, p101-105, 5p
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6
المؤلفون: Széll, Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta
المصدر: Current Issues in Molecular Biology; Volume 45; Issue 7; Pages: 5293-5304
مصطلحات موضوعية: basal cell nevus syndrome, Gorlin syndrome, whole-exome sequencing, multiplex ligation-dependent probe amplification, missing heritability
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=multidiscipl::6767479621f0f7f26aba8dd0be0e4ebc
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7
المؤلفون: Magdolna Kósa, Emese Horváth, Tibor Kalmár, Zoltán Maróti, Imre Földesi, Csaba Bereczki
المصدر: Journal of Pediatric Genetics.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, 03.02. Klinikai orvostan, Genetics (clinical)
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bca4061bed5f29314973a31084c0935
https://doi.org/10.1055/s-0042-1757621 -
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المؤلفون: Dénes Zádori, András Salamon, László Vécsei, Péter Klivényi, Emese Horváth
المصدر: Orvosi Hetilap. 160:1353-1357
مصطلحات موضوعية: Dystonia, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Deep brain stimulation, business.industry, medicine.medical_treatment, Zonisamide, General Medicine, Carbamazepine, medicine.disease, nervous system diseases, SGCE, medicine, medicine.symptom, Abnormality, business, Myoclonus, Muscle cramp, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b6adf90e405bc9d6bae04d598adc01c
https://doi.org/10.1556/650.2019.31472 -
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المؤلفون: Zsuzsanna Bereczky, Péter Faragó, Andrea Vass, Dénes Zádori, András Salamon, János Tajti, Viola Luca Németh, Emese Horváth, Noémi Szépfalusi, László Vécsei, Péter Klivényi
المصدر: Ideggyógyászati szemle. 72:65-70
مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Internal medicine, medicine, Cardiology, Osler rendu weber, Neurology (clinical), medicine.disease, business, Stroke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::059790ad83255dac0b6db2ed7b91c749
https://doi.org/10.18071/isz.72.0065 -
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المؤلفون: György Oroszlán, Zsuzsanna Kiss, Márta Széll, Nikoletta Nagy, Dóra Török, Katalin Farkas, Éva Dávid, Emese Horváth, Márta Balogh
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)
BMC Pediatricsمصطلحات موضوعية: Diarrhea, Male, medicine.medical_specialty, Novel mutation, Congenital chloride diarrhea, Recurrent mutation, Hypochloremia, Metabolic alkalosis, Compound heterozygous state, Case Report, SLC26A3, SLC26A3 gene, Gastroenterology, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Humans, 030212 general & internal medicine, Genetic testing, Hungary, medicine.diagnostic_test, biology, business.industry, Infant, Newborn, lcsh:RJ1-570, lcsh:Pediatrics, Abdominal distension, medicine.disease, equipment and supplies, Pedigree, Phenotype, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, business, Metabolism, Inborn Errors