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1دورية أكاديمية
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
العلاقة: http://link.springer.com/article/10.1186/s13039-018-0377-1Test; https://doaj.org/toc/1755-8166Test
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2دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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المؤلفون: Barbora Straka, Barbora Hermanovska, Lenka Krskova, Josef Zamecnik, Marketa Vlckova, Miroslava Balascakova, Pavel Tesner, Petr Jezdik, Michal Tichy, Martin Kyncl, Alena Musilova, Petra Lassuthova, Petr Marusic, Pavel Krsek
المصدر: Neurology. Genetics. 8(5)
مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00cc37125046ad093ee343ff7b8b0fdaTest
https://pubmed.ncbi.nlm.nih.gov/36324633Test -
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المصدر: Česká a slovenská neurologie a neurochirurgie.
مصطلحات موضوعية: Legius syndrome, medicine.medical_specialty, business.industry, Medicine, Surgery, Neurology (clinical), Differential diagnosis, business, medicine.disease, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1958361dd1e317193a2c705fef68ec4cTest
https://doi.org/10.48095/cccsnn2021211Test -
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المؤلفون: Jaroslav Loucky, Tomáš Zima, Vladimir Gregor, Pavel Tesner, David Čutka, Drahomira Springer, David Stejskal
المصدر: Journal of Medical Screening. 25:114-118
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Decision Making, 030105 genetics & heredity, Screening algorithm, Ultrasonography, Prenatal, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Chromosomal Abnormality, Antenatal screening, Humans, Mass Screening, Pregnancy-Associated Plasma Protein-A, Medicine, Chorionic Gonadotropin, beta Subunit, Human, False Positive Reactions, Registries, Czech Republic, Fetus, 030219 obstetrics & reproductive medicine, S syndrome, Cell-Free System, business.industry, Obstetrics, Health Policy, Public Health, Environmental and Occupational Health, Peptide Fragments, Test (assessment), Pregnancy Trimester, First, Pregnancy Trimester, Second, Female, Down Syndrome, Nuchal Translucency Measurement, business, Algorithms, Maternal Age
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126529d435cc9b5d0f24c29e770615d7Test
https://doi.org/10.1177/0969141317752533Test -
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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 الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5cbbe82eaae9bca38cc2ed219c94aecTest
https://doi.org/10.1159/000488790Test