المؤلفون: Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)

مصطلحات موضوعية: congenital myasthenic syndrome type 20, exome sequencing, neurodevelopmental disorders, SLC5A7, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/ac28d702f1ca400cb6a8a587f2f95197

المؤلفون: Kamila Prochazkova, Petr Novotny, Miroslava Hancarova, Darina Prchalova, Zdenek Sedlacek

المصدر: BMC Medical Education, Vol 19, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Medical genetics, Genomics, Bioinformatics, Medical databases, Interactive teaching application, E-learning, Special aspects of education, LC8-6691, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12909-019-1817-2; https://doaj.org/toc/1472-6920

URL الوصول: https://doaj.org/article/622d7dcc852f40409be0c3b974f989cd

المؤلفون: Dong Li, Qin Wang, Allan Bayat, Mark Battig, Yijing Zhou, Daniëlle G. M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis Perez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O'Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, mark tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, Catherine B. Nowak

المساهمون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark, Zhou, Yijing, Bosch, Daniëlle G. M., van Haaften, Gij, Granger, Leslie, Petersen, Andrea K., Perez-Jurado, Lui, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlíková Pourová, Radka, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan C., Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Kristin Parsley, Lea, Agolini, Emanuele, Lisa Dentici, Maria, Novelli, Antonio, Wright, Meredith S., Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Roger Lebel, Robert, Balci, Tugce B., Louie, Raymond J., Lyons, Michael J., Douglas, Jessica, Nowak, Catherine B.

مصطلحات موضوعية: Development, Genetic disease, Genetic, Neurodevelopment, iPS cells

وصف الملف: ELETTRONICO

Relation: firstpage:N/A; lastpage:N/A; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11567/1158036

الاتاحة: https://hdl.handle.net/11567/1158036
https://doi.org/10.1172/jci171235

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: 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: Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: SYNGAP1 gene, Intellectual disability, Epilepsy, Splice mutation, Splice region, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0425-4; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/3e1a867baa6841e9871a450a27e326a8

المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-020-19289-5; https://doaj.org/toc/2041-1723; https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247

الاتاحة: https://doi.org/10.1038/s41467-020-19289-5
https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247

المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-020-18723-y; https://doaj.org/toc/2041-1723; https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc

الاتاحة: https://doi.org/10.1038/s41467-020-18723-y
https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc

المؤلفون: Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

مصطلحات موضوعية: C12orf4, consanguinity, exome sequencing, intellectual disability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/7e30fc8634c847a9b914fed3c97b4fba

المؤلفون: Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper

المصدر: PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/93967530c8af4c5fa8d3a8dbcc7ae4f4

المؤلفون: Sangmoon Lee, Ryojun Takeda, Nataliya Di Donato, Masashige Bando, Darina Prchalova, Mathieu Quesnel-Vallières, Seiji Mizuno, Naomichi Matsumoto, Koji Masuda, Miroslava Hancarova, Margaret Harr, Karl Hackmann, Zdenek Sedlacek, Alica Valachova, Alyssa Ritter, Eriko Nishi, Tommaso Pippucci, Michiko Arakawa, Katsuhiko Shirahige, Katsunori Fujiki, Elaine H. Zackai, Noriko Miyake, Marketa Vlckova, Ryuichiro Nakato, Aiko Iwata-Otsubo, Yoseph Barash, Christoph Seiler, Dong Li, Beth Keena, Nobuhiko Okamoto, Kosuke Izumi, Jung Min Ko, Sarah K. Fiordaliso, Elizabeth J. Bhoj, Hakon Hakonarson, Murim Choi, Jenny Morton

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Mutation, Missense, Down-Regulation, Biology, Histone Deacetylases, Transcriptome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genes, X-Linked, Report, Genetics, Transcriptional regulation, Animals, Humans, Missense mutation, Cognitive Dysfunction, Amino Acid Sequence, Gene, Zebrafish, Genetics (clinical), X chromosome, Spliceosomal complex, Exons, biology.organism_classification, Repressor Proteins, 030104 developmental biology, Gene Expression Regulation, Sequence Alignment, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e482e0e75fe75f8dd9e62c99c9b3fb4
https://doi.org/10.1016/j.ajhg.2019.09.009

المؤلفون: Marketa Havlovicova, Darina Prchalova, Viktor Stranecky, Miroslava Hancarova, Jan Vseticka, Zdenek Sedlacek, Martina Putzova

المصدر: American Journal of Medical Genetics Part A. 179:2119-2123

مصطلحات موضوعية: Male, endocrine system, Somatic cell, Genetic counseling, Germline mosaicism, Young Adult, Pregnancy, Genetics, Humans, Abnormalities, Multiple, Amino Acid Sequence, Child, Gonads, Exome, Genetics (clinical), Exome sequencing, Base Sequence, biology, Mosaicism, Siblings, Haplotype, Syndrome, NFIX, Pedigree, NFI Transcription Factors, Somatic mosaicism, Child, Preschool, Mutation, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3cdaaad0717cdc7d125a13b77f77ef5
https://doi.org/10.1002/ajmg.a.61302

المؤلفون: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini

المساهمون: Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University of Arizona, Amsterdam UMC - Amsterdam University Medical Center, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Birmingham Women's and Children's NHS Foundation Trust, University of Akron, Yerevan State Medical University after Mkhitar Heratsi, Charles University [Prague] (CU), Center for Integrative Brain Research, University of Washington [Seattle], University of California [Los Angeles] (UCLA), University of California (UC), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Karolinska Institutet [Stockholm], National Human Genome Research Institute, Ministry of Health of the Czech Republic, DGOS, Wellcome Trust, Chard-Hutchinson, Xavier, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Amsterdam UMC, University of California, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Genetics, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Human Genetics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Press

مصطلحات موضوعية: Models, Molecular, Male, 0301 basic medicine, Hydrolases, [SDV]Life Sciences [q-bio], Hippocampal formation, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Tubulin, Models, Neurotrophic factors, Cerebellum, Intellectual disability, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, dendrite branching, Genetics (clinical), de novo missense variants, Pediatric, Genetics & Heredity, DPYSL5, Biological Sciences, [SDV] Life Sciences [q-bio], corpus callosum agenesis, Mental Health, Child, Preschool, Neurological, Female, Microtubule-Associated Proteins, Adult, Neurite, Intellectual and Developmental Disabilities (IDD), primary neuronal cultures, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, Rare Diseases, Mediator, Report, Intellectual Disability, Genetics, medicine, Humans, Preschool, Corpus Callosum Agenesis, brain malformation, Neurosciences, Molecular, medicine.disease, neurodevelopmental disorder, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Missense, Agenesis of Corpus Callosum, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134

المؤلفون: Peter Vasovcak, Kristyna Pavlikova, Zdenek Sedlacek, Petr Skapa, Martin Kouda, Jiri Hoch, Anna Krepelova

المصدر: PLoS ONE, Vol 6, Iss 8, p e24114 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3162034?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6555e028b8644479980f7c77c4f9f5fd

المؤلفون: Zdeněk Sedláček

المصدر: Envigogika, Vol 6, Iss 1 (2011)

مصطلحات موضوعية: Special aspects of education, LC8-6691, Environmental sciences, GE1-350

Relation: https://www.envigogika.cuni.cz/index.php/Envigogika/article/view/262; https://doaj.org/toc/1802-3061; https://doaj.org/article/fb47afe221ab464db6c7295b4954202d

الاتاحة: https://doi.org/10.14712/18023061.262
https://doaj.org/article/fb47afe221ab464db6c7295b4954202d

المؤلفون: Zdeněk Sedláček

المصدر: Envigogika, Vol 3, Iss 2 (2008)

مصطلحات موضوعية: Special aspects of education, LC8-6691, Environmental sciences, GE1-350

Relation: https://www.envigogika.cuni.cz/index.php/Envigogika/article/view/135; https://doaj.org/toc/1802-3061; https://doaj.org/article/549614c130764690942cd799de422998

الاتاحة: https://doi.org/10.14712/18023061.135
https://doaj.org/article/549614c130764690942cd799de422998

المؤلفون: Zdeněk Sedláček

المصدر: Envigogika, Vol 2, Iss 3 (2007)

مصطلحات موضوعية: Special aspects of education, LC8-6691, Environmental sciences, GE1-350

Relation: https://www.envigogika.cuni.cz/index.php/Envigogika/article/view/125; https://doaj.org/toc/1802-3061; https://doaj.org/article/c18aa53038b34c5ea055b4a71503e905

الاتاحة: https://doi.org/10.14712/18023061.125
https://doaj.org/article/c18aa53038b34c5ea055b4a71503e905

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: Patrick Shannon, Rosanna Weksberg, Ioana Miron, Kathelijne Keymolen, Jean Mathieu, Zuzana Musova, Arturo Lopez-Castel, Julie Letourneau, Michael D. Wilson, Claudia Spits, Sanaa Choufani, Minggao Liang, Silvie Franck, Stéphanie Tomé, Cynthia Gagnon, Stella Lanni, Christopher E. Pearson, David Chitayat, Sara Seneca, Karen Sermon, Lise Barbé, Zdenek Sedlacek

المساهمون: Faculty of Medicine and Pharmacy, Basic (bio-) Medical Sciences, Reproduction and Genetics, Clinical sciences

المصدر: The American Journal of Human Genetics. 100:488-505

مصطلحات موضوعية: Male, 0301 basic medicine, pre-natal diagnosis, Human Embryonic Stem Cells, 0302 clinical medicine, Pregnancy, Myotonic Dystrophy, Genetics(clinical), Child, Promoter Regions, Genetic, Genetics (clinical), Genetics, Myotonin-protein kinase, Methylation, Pedigree, medicine.anatomical_structure, CpG site, DNA methylation, Chorionic villi, Female, SIX5/DMAHP, DMPK, Adult, Adolescent, congenital myotonic dystrophy, parent-of-origin effect(s), Biology, Myotonic dystrophy, Myotonin-Protein Kinase, Article, Cell Line, DNA/CpG methylation, Young Adult, 03 medical and health sciences, medicine, Humans, Epigenetics, epigenetics, Base Sequence, maternal transmission/maternal inheritance, Sequence Analysis, DNA, DNA Methylation, medicine.disease, 030104 developmental biology, Linear Models, CpG Islands, trinucleotide instability, Age of onset, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d04fdc4968a551c425e61e4245e62c
https://doi.org/10.1016/j.ajhg.2017.01.033

المؤلفون: Jiří Manďák, Vladimír Lonský, Zdeněk Sedláček

المصدر: Acta Medica, Vol 43, Iss 1, Pp 29-31 (2000)

مصطلحات موضوعية: Open-heart surgery, Ischemic heart disease, Sternal osteomyelitis, Sternobronchial fistula, Medicine

Relation: https://actamedica.lfhk.cuni.cz/43/1/0029/; https://doaj.org/toc/1211-4286; https://doaj.org/toc/1805-9694; https://doaj.org/article/f119e375fa1341d3b73087cc12aedb89

الاتاحة: https://doi.org/10.14712/18059694.2019.114
https://doaj.org/article/f119e375fa1341d3b73087cc12aedb89