المؤلفون: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Exome sequencing, Neurodevelopmental disorders, Sequence variant, Copy-number variation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/46268ac87d8b4810be2aceadfdb01208

المؤلفون: Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: ATS-MR syndrome, trio-based whole exome sequencing, genotype-phenotype analysis, neurodevelopmental disorders, Xq22.3q23 deletions, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.750110/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2

المؤلفون: Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Intellectual disability, Developmental delay, Microdeletion, Microduplication, CNV, Array-CGH, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-019-0559-7; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/42c14baaa91d4bca8a0a64c3d64959f7

المؤلفون: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik

مصطلحات موضوعية: Genetics, Exome sequencing, Neurodevelopmental disorders, Sequence variant, Copy-number variation

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Exome_sequencing_improves_the_molecular_diagnostics_of_paediatric_unexplained_neurodevelopmental_disorders/25157374

الاتاحة: https://doi.org/10.6084/m9.figshare.25157374.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Exome_sequencing_improves_the_molecular_diagnostics_of_paediatric_unexplained_neurodevelopmental_disorders/25157374

المؤلفون: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik

المصدر: Molecular Medicine Reports. 27

مصطلحات موضوعية: Cancer Research, Oncology, Genetics, Molecular Medicine, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::26955e0a9229cb3be6d1ea7bc5b13d5f
https://doi.org/10.3892/mmr.2023.12997

المؤلفون: Jan Smetana, Jan Frohlich, Romana Zaoralova, Vladimira Vallova, Henrieta Greslikova, Renata Kupska, Pavel Nemec, Aneta Mikulasova, Martina Almasi, Ludek Pour, Zdenek Adam, Viera Sandecka, Lenka Zahradová, Roman Hajek, Petr Kuglik

المصدر: BioMed Research International, Vol 2014 (2014)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2014/209670; https://doaj.org/toc/2314-6133; https://doaj.org/toc/2314-6141; https://doaj.org/article/06135be4e7bc4c8384d0e33053c482cd

الاتاحة: https://doi.org/10.1155/2014/209670
https://doaj.org/article/06135be4e7bc4c8384d0e33053c482cd

المؤلفون: Jan Smetana (3639565), Vladimira Vallova (7033760), Marketa Wayhelova (7033757), Eva Hladilkova (7033763), Hana Filkova (7033766), Vera Horinova (11621842), Petr Broz (383934), Aneta Mikulasova (11621845), Renata Gaillyova (7033778), Petr Kuglík (4779903)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, ATS-MR syndrome, trio-based whole exome sequencing, genotype-phenotype analysis, neurodevelopmental disorders, Xq22.3q23 deletions

Relation: https://figshare.com/articles/dataset/Table1_Case_Report_Contiguous_Xq22_3_Deletion_Associated_with_ATS-ID_Syndrome_From_Genotype_to_Further_Delineation_of_the_Phenotype_XLSX/16901272

الاتاحة: https://doi.org/10.3389/fgene.2021.750110.s002

المؤلفون: Jan Smetana (3639565), Vladimira Vallova (7033760), Marketa Wayhelova (7033757), Eva Hladilkova (7033763), Hana Filkova (7033766), Vera Horinova (11621842), Petr Broz (383934), Aneta Mikulasova (11621845), Renata Gaillyova (7033778), Petr Kuglík (4779903)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, ATS-MR syndrome, trio-based whole exome sequencing, genotype-phenotype analysis, neurodevelopmental disorders, Xq22.3q23 deletions

Relation: https://figshare.com/articles/dataset/DataSheet1_Case_Report_Contiguous_Xq22_3_Deletion_Associated_with_ATS-ID_Syndrome_From_Genotype_to_Further_Delineation_of_the_Phenotype_docx/16901269

الاتاحة: https://doi.org/10.3389/fgene.2021.750110.s001

المؤلفون: Petr, Kuglik, Jan, Smetana, Vladimira, Vallova, Lucie, Moukova, Katerina, Kasikova, Michaela, Cvanova, Lucie, Brozova

المصدر: International journal of clinical and experimental pathology. 7(8)

مصطلحات موضوعية: Adult, Comparative Genomic Hybridization, DNA Copy Number Variations, Gene Expression Profiling, Carcinoma, Papillomavirus Infections, Loss of Heterozygosity, Uterine Cervical Neoplasms, Middle Aged, Sensitivity and Specificity, Humans, Female, Original Article, In Situ Hybridization, Fluorescence, Aged, Oligonucleotide Array Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::330458aeb137cf3a1124eee6e1461bd5
https://pubmed.ncbi.nlm.nih.gov/25197380