المؤلفون: Jana Drábová

المصدر: Paidagogos, Vol 2015, Iss 2 (2015)

مصطلحات موضوعية: Education

وصف الملف: electronic resource

Relation: http://www.paidagogos.net/issues/2015/2/article.php?id=9; https://doaj.org/toc/1213-3809

URL الوصول: https://doaj.org/article/bb91cc81b2004662a66095e7d1381d41

المؤلفون: Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova

المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 5p tetrasomy, Marker chromosome, Mosaicism, Intellectual disability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13039-018-0377-1; https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/d251c1d45d1544abaf486394b2857005

المؤلفون: Anna Siskova, Jan Kral, Jana Drabova, Klara Cervena, Kristyna Tomasova, Jiri Jungwirth, Tomas Hucl, Pavel Kohout, Sandra Summerova, Ludmila Vodickova, Pavel Vodicka, Veronika Vymetalkova

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 7656

مصطلحات موضوعية: colorectal cancer, adenomas, array comparative genomic hybridization, long non-coding RNA, MALAT1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Oncology; https://dx.doi.org/10.3390/ijms23147656

الاتاحة: https://doi.org/10.3390/ijms23147656

المؤلفون: Lubica Dudakova, Lenka Noskova, Stanislav Kmoch, Martin Filipec, Ales Filous, Alice E. Davidson, Vasileios Toulis, Jana Jedlickova, Pavlina Skalicka, Hana Hartmannova, Viktor Stranecky, Jana Drabova, Drahuse Novotna, Marketa Havlovicova, Zdenek Sedlacek, Petra Liskova

Relation: https://doi.org/10.1155/2024/4450082

الاتاحة: https://doi.org/10.1155/2024/4450082

المؤلفون: Michal Kroupa, Kristyna Tomasova, Katerina Saskova, Jana Drabova, Josef Horak, Ludmila Vodickova, Jachym Rosendorf, Vaclav Liska, Pavel Vodicka

المصدر: Cancer Research. 82:760-760

مصطلحات موضوعية: Cancer Research, Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::15d2df71923cf84c982dd7c314087c9a
https://doi.org/10.1158/1538-7445.am2022-760

المؤلفون: Jana Paderova, Jana Drabova, Andrea Holubova, Marketa Vlckova, Marketa Havlovicova, Andrea Gregorova, Radka Pourova, Vera Romankova, Veronika Moslerova, Jan Geryk, Patricia Norambuena, Veronika Krulisova, Anna Krepelova, Milan Macek

المصدر: European Journal of Medical Genetics. 61:315-321

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Genotype, Ubiquitin-Protein Ligases, Nerve Tissue Proteins, Biology, Receptors, N-Methyl-D-Aspartate, Genetic Heterogeneity, 03 medical and health sciences, Intellectual Disability, Genetic variation, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Child, Gene, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Exome sequencing, Chromosomes, Human, Pair 14, Histone Demethylases, Comparative Genomic Hybridization, Genetic heterogeneity, Tumor Suppressor Proteins, High-Throughput Nucleotide Sequencing, Nuclear Proteins, General Medicine, Peptide Elongation Factors, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, Vestibular Diseases, Child, Preschool, Face, Female, Kabuki syndrome, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9edade7f30807c6ec163586eaf687f
https://doi.org/10.1016/j.ejmg.2018.01.005

المؤلفون: Zdenek Sedlacek, Jana Zidovska, Jana Drabova, Miroslava Hancarova, Marketa Vlckova, Jana Lastuvkova, Jan Vseticka, Radka Kremlikova Pourova, Pavel Tesner, Eduard Kocarek, Anna Klimova

المصدر: Cytogenetic and Genome Research. 154:187-195

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Marker chromosome, Genetic counseling, Genetic Counseling, Prenatal diagnosis, Biology, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Molecular Biology, Small supernumerary marker chromosome, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Infant, Karyotype, Prognosis, medicine.disease, 030104 developmental biology, Child, Preschool, Karyotyping, Fish , Female, Abnormality, Algorithms, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5cbbe82eaae9bca38cc2ed219c94aec
https://doi.org/10.1159/000488790

المؤلفون: Marcela Malíková, Alena Puchmajerová, Jan Geryk, Marketa Havlovicova, Sarka Vejvalkova, Anna Křepelová, Marketa Vlckova, Radka Kremlikova Pourova, N. Ptáková, Aleš Maver, M. Šenkeříková, Martina Simandlova, Milan Macek, Jana Drabova, A. Holubová, Jana Paděrová

المصدر: Clinical Genetics. 90:230-237

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, Disease, Biology, medicine.disease, Phenotype, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Gene duplication, symbols, medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, Gene, Kabuki syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::edac65830553e8ba1642902f75a322fe
https://doi.org/10.1111/cge.12754

المؤلفون: Renata Cibochova, Pavel Seeman, Julia Stellmachova, Dana Safka Brozkova, Anna Uhrova Meszarosova, Jana Drabova, Jan Jencik

المصدر: Neuroscience Letters. 721:134800

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Roma, Adolescent, Hereditary spastic paraplegia, Population, Biology, Compound heterozygosity, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ethnicity, medicine, Humans, Child, education, Gene, Czech Republic, Genetics, education.field_of_study, Massive parallel sequencing, Spastic Paraplegia, Hereditary, General Neuroscience, Haplotype, Genetic Variation, Proteins, Heterozygote advantage, Middle Aged, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Female, Phenylalanine-tRNA Ligase, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f23172bf4287ffe99135d5626d5e2aa9
https://doi.org/10.1016/j.neulet.2020.134800

المؤلفون: Martin Horacek, Radka Kremlikova Pourova, Tereza Jancuskova, Eva Seemanova, Zdenek Sedlacek, Sona Pekova, Drahuse Novotna, Jana Drabova, Miroslava Hancarova

المصدر: American Journal of Medical Genetics Part A. 167:837-841

مصطلحات موضوعية: Genetics, Candidate gene, HNRNPC, Macrocephaly, Microdeletion syndrome, Biology, Bioinformatics, medicine.disease, Phenotype, Position effect, Intellectual disability, medicine, medicine.symptom, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3552dd6fcdecc259df1d8fcf42860382
https://doi.org/10.1002/ajmg.a.36957

المؤلفون: Zdenek Sedlacek, Drahuse Novotna, Zuzana Slamova, Zuzana Zemanova, Mana M. Mehrjouy, Tatana Marikova, Lusine Nazaryan-Petersen, Zdenka Vlckova, Miroslava Hancarova, Jana Drabova, Mads Bak, Niels Tommerup, Marketa Vlckova

المصدر: Human mutation. 39(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, DNA Repair, DNA repair, Karyotype, Chromosomal translocation, Biology, Germline, 03 medical and health sciences, symbols.namesake, Genetics, Chromosomes, Human, Humans, Genetics (clinical), Sanger sequencing, Whole genome sequencing, Chromothripsis, Base Sequence, Breakpoint, Infant, Newborn, Chromosome, Infant, DNA, 030104 developmental biology, Germ Cells, Child, Preschool, symbols

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a45785dd3adf1d8f966606d4b1b721
https://pubmed.ncbi.nlm.nih.gov/29405539

المؤلفون: Michaela Kotrova, Miroslava Hancarova, Jana Drabova, Marcela Malíková, Zdenek Sedlacek, Marie Trkova

المصدر: American journal of medical genetics. Part A. 176(6)

مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, Eczema, Hypertrichosis, 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Dubowitz syndrome, Child, Gene, Carney complex, Genetics (clinical), Growth Disorders, Fibromatosis, Gingival, Facies, Telomere, medicine.disease, Phenotype, 030104 developmental biology, Face, Speech delay, Microcephaly, Female, PSMD12, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a37efb37813b4dbf7496997b904b0f9
https://pubmed.ncbi.nlm.nih.gov/29696806

المؤلفون: Lenka Elblova, Jana Drabova, Radana Kotalova, Ondrej Cinek, Jan Lebl, Stepanka Pruhova, Petra Dusatkova, Tomas Dedic

المصدر: Annals of human genetics. 82(1)

مصطلحات موضوعية: 0301 basic medicine, Proband, Liver Cirrhosis, Male, medicine.medical_specialty, Enlarged liver, Gene Dosage, 030105 genetics & heredity, Gastroenterology, 03 medical and health sciences, Cholestasis, Biliary atresia, Internal medicine, Chromosome Duplication, Genetics, medicine, Humans, Choledochal cysts, Genetics (clinical), Hepatocyte Nuclear Factor 1-beta, business.industry, Infant, Newborn, Anastomosis, Roux-en-Y, medicine.disease, Jejunum, Liver, Choledochal Cyst, Chromosomal region, Hepatic Cyst, medicine.symptom, business, Hepatic fibrosis, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c467fea1eb3c687b02dae5e83ac8f42a
https://pubmed.ncbi.nlm.nih.gov/28940454

المؤلفون: Martina Simandlova, Ants Kurg, Jana Drabova, Katrin Männik, Miroslava Hancarova, Zdenek Sedlacek

المصدر: American Journal of Medical Genetics Part A; Vol 161
American Journal of Medical Genetics Part A

مصطلحات موضوعية: Microcephaly, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Allele, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Facies, Nuclear Proteins, Syndrome, Microdeletion syndrome, medicine.disease, Proto-Oncogene Proteins c-rel, 3. Good health, Repressor Proteins, Chromosomes, Human, Pair 2, Autism, Female, Chromosome Deletion, Carrier Proteins, 030217 neurology & neurosurgery, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79ca34757da2717552482ec78c8eab9

المؤلفون: Petra Hedvicakova, Marketa Vlckova, Zuzana Zmitkova, Miroslava Hancarova, Sarka Vejvalkova, Drahuse Novotna, Zdenka Vlckova, Jana Drabova, Zdenek Sedlacek, Tatana Marikova

المصدر: New Biotechnology. 29:321-324

مصطلحات موضوعية: Male, medicine.medical_specialty, Developmental Disabilities, Bioengineering, Genomics, Biology, Genome, 03 medical and health sciences, Chromosome (genetic algorithm), medicine, Humans, Copy-number variation, Child, Molecular Biology, X chromosome, 030304 developmental biology, Genetics, Chromosomes, Human, X, Comparative Genomic Hybridization, 0303 health sciences, Genome, Human, 030305 genetics & heredity, Infant, Newborn, Cytogenetics, Genetic Diseases, X-Linked, Karyotype, General Medicine, medicine.disease, Chromosomes, Human, Pair 1, Child, Preschool, Autism, Chromosome Deletion, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a060938b2627902156cdcdc19adaa50d
https://doi.org/10.1016/j.nbt.2010.10.006

المؤلفون: Z. Zmitkova, Zdenek Sedlacek, Miroslava Hancarova, Zuzana Zemanova, D Raskova, Y Tan, D Novotna, Alena Puchmajerová, Marketa Vlckova, Jana Drabova, M Trkova

المصدر: Cytogenetic and Genome Research; Vol 136

مصطلحات موضوعية: Male, Marker chromosome, Karyotype, Biology, 03 medical and health sciences, Centromere, Genetics, Humans, Molecular Biology, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, 030305 genetics & heredity, Breakpoint, Infant, Chromosome, Phenotype, Molecular biology, Chromosome Banding, Child, Preschool, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d329035bb6f304cc807d0d03bab965fa
https://doi.org/10.1159/000334709

المؤلفون: Ants Kurg, Katrin Männik, Marketa Vlckova, Monika Koudova, Zdenek Sedlacek, Zuzana Slamova, Renata Alanova, Miroslava Hancarova, Jana Drabova

المصدر: Twin Research and Human Genetics

مصطلحات موضوعية: Adult, Male, Monozygotic twin, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Intellectual Disability, medicine, Humans, Allele, Genetics (clinical), Genetics, Haplotype, Obstetrics and Gynecology, Twins, Monozygotic, Microdeletion syndrome, medicine.disease, Smith–Magenis syndrome, Twin study, 17q21.31 microdeletion syndrome, Haplotypes, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, Smith-Magenis Syndrome, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245240e06ff5915a57ae1b35c32ead0f
https://pubmed.ncbi.nlm.nih.gov/24909117

المؤلفون: Eliska Karaskova, Marketa Vlckova, Zdenek Sedlacek, Alena Puchmajerová, Miroslava Hancarova, Jana Drabova

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Genetics, Text mining, business.industry, Severe phenotype, Humans, Abnormalities, Multiple, Female, Biology, Chromosome Deletion, business, Chromosomes, Human, Pair 9, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f5c591f8d3ba24c6735ba7749eace40
https://pubmed.ncbi.nlm.nih.gov/24501764

المؤلفون: Jana, Drabova, Eva, Seemanova, Miroslava, Hancarova, Radka, Pourova, Martin, Horacek, Tereza, Jancuskova, Sona, Pekova, Drahuse, Novotna, Zdenek, Sedlacek

المصدر: American journal of medical genetics. Part A. (4)

مصطلحات موضوعية: Chromosomes, Human, Pair 14, DNA-Binding Proteins, Male, Adolescent, Developmental Disabilities, Intellectual Disability, Humans, Abnormalities, Multiple, Chromosome Deletion, Megalencephaly, Follow-Up Studies, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d3f55825aa6e270ba98c40ff40906507
https://pubmed.ncbi.nlm.nih.gov/25735987

المؤلفون: Sarka Vejvalkova, Marketa Vlckova, Miroslava Hancarova, Zdenek Sedlacek, Alzbeta Dleskova, Marie Trkova, Jana Drabova

المصدر: Gene. 516(1)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Karyotype, Gene Dosage, Biology, Polymorphism, Single Nucleotide, Borderline intellectual functioning, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, In Situ Hybridization, Fluorescence, General Medicine, Syndrome, Microdeletion syndrome, medicine.disease, FMR1, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Speech delay, medicine.symptom, Chromosome Deletion, Gene Deletion, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60cedb7de19b04a51b009d3a0145250
https://pubmed.ncbi.nlm.nih.gov/23266801