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1دورية أكاديمية
المؤلفون: Petr Vrtel, Radek Vrtel, Eva Klaskova, Dita Vrbicka, Katerina Adamova, Jan Pavlicek, Vaclav Hana, Ondrej Soucek, Veronika Stara, Jan Lebl, Marta Snajdrova, Jirina Zapletalova, Tomas Furst, Sabina Kapralova, Zdenek Tauber, Eva Krejcirikova, Marketa Routilova, Julia Stellmachova, Radek Vodicka, Martin Prochazka
المصدر: Biomedical Papers, Vol 166, Iss 1, Pp 63-67 (2022)
مصطلحات موضوعية: turner syndrome, karyotype, phenotype, haplotype, chromosome x origin, imprinting, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
المصدر: PeerJ, Vol 7, p e7979 (2019)
مصطلحات موضوعية: ADHD, Intellectual disabilities, CNV, Epilepsy, Microcephaly, Growth defects, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Pavlina Capkova, Josef Srovnal, Zuzana Capkova, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
المصدر: PeerJ, Vol 6, p e6183 (2019)
مصطلحات موضوعية: Autism spectrum disorders, Copy number variants, Multiplex ligation-dependent probe amplification, DOCK8, Chromosomal microarray analysis, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Jan Pavlicek, Ondrej Soucek, Radek Vrtel, Eva Klaskova, Vaclav Hana, Veronika Stara, Katerina Adamova, Tomas Fürst, Vaclav Hana Jr., Sabina Kapralova, Martin Prochazka, Marta Snajderova, Hana Tomaskova, Zbynek Tüdös, Dita Vrbicka, Petr Vrtel, Jirina Zapletalova, Zdenek Tauber, Jan Lebl
المصدر: Hormone research in paediatrics. 95(5)
مصطلحات موضوعية: Endocrinology, Monosomy, Mosaicism, Endocrinology, Diabetes and Metabolism, Karyotyping, Pediatrics, Perinatology and Child Health, Mouth Mucosa, Humans, Turner Syndrome, Female, Epithelial Cells, Lymphocytes, In Situ Hybridization, Fluorescence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495e752b041a753a0cff256c2c467d66
https://pubmed.ncbi.nlm.nih.gov/35970147 -
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المؤلفون: Zuzana Capkova, Marian Hajduch, Katerina Adamova, Josef Srovnal, Pavlina Capkova, Martin Prochazka
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Chromosome Disorders, Locus (genetics), QH426-470, 030105 genetics & heredity, Biology, Clinical Reports, 16p11.2 duplication, 03 medical and health sciences, Chromosome Duplication, Gene duplication, Intellectual disability, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, SNP, Multiplex ligation-dependent probe amplification, Sibling, Child, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, Clinical Report, Macrocephaly, 15q11.2 duplication, medicine.disease, developmental delay, Cytoskeletal Proteins, Phenotype, 030104 developmental biology, Child, Preschool, 9p24.3 duplication, Autism, Female, medicine.symptom, Chromosomes, Human, Pair 9
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6
المؤلفون: Vaclav Hana, Jan Lebl, Ondrej Soucek, Martin Prochazka, Eva Klásková, Katerina Adamova, Jan Pavlíček, D Vrbická, Marta Snajderova, P Vrtel, Radek Vrtel, J. Zapletalova, Veronika Stará
المصدر: European Heart Journal. 41
مصطلحات موضوعية: medicine.medical_specialty, Monosomy, business.industry, medicine.disease, Turner's syndrome, Bicuspid aortic valve, Great vessels, Internal medicine, Turner syndrome, medicine, Cardiology, Cardiology and Cardiovascular Medicine, Genomic imprinting, business, X chromosome, X-linked recessive inheritance
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa19d82ccd5346ea2b090f6e4550c9fe
https://doi.org/10.1093/ehjci/ehaa946.2166 -
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المصدر: PeerJ, Vol 8, p e10236 (2020)
PeerJمصطلحات موضوعية: Oncology, medicine.medical_specialty, Epidemiology, Screening for mutations, Turner syndrome, lcsh:Medicine, 030209 endocrinology & metabolism, Biology, Pediatrics, Short stature, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, FISH, Internal medicine, medicine, Sequencing, Multiplex ligation-dependent probe amplification, Molecular Biology, Léri–Weill dyschondrosteosis, 030304 developmental biology, 0303 health sciences, Langer mesomelic dysplasia, Idiopathic short stature, General Neuroscience, lcsh:R, Karyotype, Genomics, General Medicine, medicine.disease, MLPA, Leri-Weill dyschondrosteosis, Exact test, Karyotyping, medicine.symptom, General Agricultural and Biological Sciences, Medical Genetics, SHOX
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8
المؤلفون: Petr Vrtel, Radek Vrtel, Eva Klaskova, Dita Vrbicka, Katerina Adamova, Jan Pavlicek, Vaclav Hana, Ondrej Soucek, Veronika Stara, Jan Lebl, Marta Snajdrova, Jirina Zapletalova, Tomas Furst, Sabina Kapralova, Zdenek Tauber, Eva Krejcirikova, Marketa Routilova, Julia Stellmachova, Radek Vodicka, Martin Prochazka
المصدر: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. 166(1)
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Monosomy, X Chromosome, Turner Syndrome, 030204 cardiovascular system & hematology, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, Coeliac disease, 03 medical and health sciences, 0302 clinical medicine, Bicuspid aortic valve, Internal medicine, Turner syndrome, Medicine, Humans, X chromosome, business.industry, Haplotype, Chromosome, medicine.disease, Phenotype, Haplotypes, 030220 oncology & carcinogenesis, Webbed neck, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277256da8e215c60fecd5fcc470f67f5
https://pubmed.ncbi.nlm.nih.gov/33463629 -
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المؤلفون: Katerina Adamova, Zbyněk Tüdös, J. Zapletalova, Eva Klásková, Sabina Kaprálová
المصدر: European Heart Journal. 40
مصطلحات موضوعية: Aortic arch, Pediatrics, medicine.medical_specialty, business.industry, medicine.artery, Turner syndrome, medicine, Risk factor, Cardiology and Cardiovascular Medicine, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f069e95a641e2c3a981905c8ed6c301e
https://doi.org/10.1093/eurheartj/ehz748.0722 -
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المؤلفون: Katerina Adamova, Katerina Staffova, Pavlina Capkova, Vera Becvarova, Josef Srovnal, Martin Prochazka, Alena Santava, Marie Trkova, Marian Hajduch, Zuzana Capkova, Vaclava Curtisova
المصدر: PeerJ, Vol 6, p e6183 (2019)
PeerJمصطلحات موضوعية: Oncology, Candidate gene, medicine.medical_specialty, Ring chromosome, Population, lcsh:Medicine, Pediatrics, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Clinical significance, Copy-number variation, Multiplex ligation-dependent probe amplification, education, 030304 developmental biology, 0303 health sciences, education.field_of_study, Copy number variants, business.industry, General Neuroscience, lcsh:R, General Medicine, Autism spectrum disorders, medicine.disease, DOCK8, Autism spectrum disorder, Autism, General Agricultural and Biological Sciences, business, Medical Genetics, 030217 neurology & neurosurgery, Chromosomal microarray analysis, Translational Medicine