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1دورية أكاديمية
المؤلفون: Krystyna H. Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska‐Abramczuk, Karl Sperling, Pavel Seeman
المصدر: Cancer Reports, Vol 6, Iss 2, Pp n/a-n/a (2023)
مصطلحات موضوعية: age of cancer manifestation, cancer risk of heterozygotes, environmental and medical exposure to ionizing radiation, NBS, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2573-8348
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2دورية أكاديمية
المؤلفون: Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova, Pavel Seeman
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Beta-mannosidosis, Ethnic-specific variant, Hearing loss, Roma, Mental retardation, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: PMD, Genomic rearrangements, Genome instability, Duplication, LCR, RBM, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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4
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5دورية أكاديمية
المؤلفون: David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Epilepsy, Epileptic encephalopathy, Targeted gene panel testing, MPS, Phenotype, KCNQ2, Medicine
وصف الملف: electronic resource
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6
المؤلفون: Anna Uhrova‐Meszarosova, Marketa Vlckova, Ladislava Rennerova, Jana Haberlova, Josef Zamecnik, Pavel Seeman, Dana Safka‐Brozkova
المصدر: Clinical Genetics. 103:723-725
مصطلحات موضوعية: Genetics, Genetics (clinical)
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7دورية أكاديمية
المؤلفون: Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gašperíková, Pavel Seeman
المصدر: Genes, Vol 12, Iss 5, p 684 (2021)
مصطلحات موضوعية: hearing loss, GJB2 monoallelic variant, DFNB1 region, next generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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8
المؤلفون: Pavel Seeman
المصدر: Neurologie pro praxi. 23:36-41
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6967b800915f95171f4c431a0c676fd5
https://doi.org/10.36290/neu.2021.064 -
9
المؤلفون: Kristyna, Doleckova, Jan, Roth, Julia, Stellmachova, Tomas, Gescheidt, Vladimir, Sigut, Pavel, Houska, Robert, Jech, Michael, Zech, Martin, Vyhnalek, Emilie, Vyhnalkova, Pavel, Seeman, Anna Uhrova, Meszarosova
المصدر: Neurological Research. 44:379-389
مصطلحات موضوعية: Phenotype, Neurology, Spastic Paraplegia, Hereditary, Mutation, Humans, Proteins, Neurology (clinical), General Medicine, Czech Republic
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10
المؤلفون: Krystyna H. Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska‐Abramczuk, Karl Sperling, Pavel Seeman
المصدر: Cancer Reports. 6
مصطلحات موضوعية: Cancer Research, Oncology