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المؤلفون: Melanie Sorensen, Yafei Mao, Sofie R. Salama, Claudia Rita Catacchio, Andy Wing Chun Pang, Françoise Thibaud-Nissen, Carl Baker, LaDeana W. Hillier, Ruiyang Li, Arvis Sulovari, Philip C. Dishuck, PingHsun Hsieh, Katherine M. Munson, Ludovica Mercuri, Jason D Fernandes, Jessica M. Storer, Joyce V. Lee, Benedict Paten, Mark A. Batzer, Peter A. Audano, David Porubsky, Tzu-Hsueh Huang, Jason G. Underwood, Evan E. Eichler, Jinna Hoffman, William T. Harvey, Kendra Hoekzema, Jerilyn A. Walker, Ian T. Fiddes, David Gordon, Marina Haukness, Alex Hastie, Alexandra P. Lewis, Francesca Antonacci, Mario Ventura, Shwetha C. Murali, Francesco Montinaro, Ilaria Piccolo, Mark Diekhans
المصدر: Nature
مصطلحات موضوعية: Pan troglodytes, Sequence assembly, Genomics, Biology, Genome informatics, Genome, Article, Evolutionary genetics, Coalescent theory, Evolution, Molecular, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, Animals, Sequencing, Phylogeny, 030304 developmental biology, Segmental duplication, 0303 health sciences, Gorilla gorilla, Multidisciplinary, Bonobo, Pongo, Molecular Sequence Annotation, Sequence Analysis, DNA, Pan paniscus, biology.organism_classification, Genome evolution, Genes, Evolutionary biology, Eukaryotic Initiation Factor-4A, Female, Human genome, Mobile genetic elements, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c85371fc3bdca9e475023b689b3d53Test
https://doi.org/10.1038/s41586-021-03519-xTest -
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المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c1b75f551f3d9ba05ded3008e83778Test
http://link.springer.com/article/10.1038/s41598-020-69134-4Test -
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المؤلفون: Fan Yang, Depeng Wang, Liying Cui, Yu Huang, Pidong Li, Shangzhi Huang, Zhi-Qiang Wang, Kai Wang, Jiapeng Zhou, Li Fang, Fan Liang, Yi Dai
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Computational biology, Biology, macrosatellite, Young Adult, Segmental Duplications, Genomic, Tandem repeat, Methods, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Allele, Alleles, Genetics (clinical), Segmental duplication, Southern blot, FSHD, D4Z4, Haplotype, DNA, Middle Aged, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Single Molecule Imaging, Pedigree, Restriction enzyme, Haplotypes, Tandem Repeat Sequences, single-molecule optical mapping, Female, Chromosomes, Human, Pair 4
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0164ec2609c29ef569811b520343faTest
https://doi.org/10.1136/jmedgenet-2019-106078Test -
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المؤلفون: Yinghua Liu, Yifan Li, Qiushun He, Xingming Lin, Ying Liu, Zhiliang Ji, Yafang Wang, Qingge Li, Qiuying Huang, Ting Wang, Xinwen Chen, Xudong Wang
المصدر: EBioMedicine, Vol 70, Iss, Pp 103535-(2021)
EBioMedicineمصطلحات موضوعية: Adult, Medicine (General), Noninvasive Prenatal Testing, Chromosome aneuploidy, Prenatal diagnosis, Aneuploidy, Chromosome Disorders, Computational biology, Biology, Computational program, General Biochemistry, Genetics and Molecular Biology, Melting curve analysis, Segmental Duplications, Genomic, R5-920, Pregnancy, medicine, Humans, Multiplex, Digital polymerase chain reaction, Segmental duplication, Segmental duplications, General Medicine, medicine.disease, Medicine, Female, Primer (molecular biology), Trisomy, Multiplex Polymerase Chain Reaction, Digital PCR, Software, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cee747782eaa1124e71dcb6d6a29416cTest
http://www.sciencedirect.com/science/article/pii/S2352396421003285Test -
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المؤلفون: Istvan Balogh, Gábor Mogyorósy, Orsolya Nagy, Katalin Szakszon, Anikó Ujfalusi, Dóra Nagy, Brigitta Orsolya Biró, Bálint Nagy
المصدر: Journal of Biotechnology. 299:86-95
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0106 biological sciences, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, Bioengineering, Disease, Klinikai orvostudományok, 01 natural sciences, Applied Microbiology and Biotechnology, Translocation, Genetic, Pathogenesis, 03 medical and health sciences, Segmental Duplications, Genomic, Pregnancy, Prenatal Diagnosis, 010608 biotechnology, Gene duplication, Humans, Medicine, Multiplex, Genetic Testing, cardiovascular diseases, Multiplex ligation-dependent probe amplification, Copy-number variation, In Situ Hybridization, Fluorescence, Genetics, Comparative Genomic Hybridization, business.industry, Infant, Orvostudományok, General Medicine, Phenotype, 030104 developmental biology, Child, Preschool, Female, business, Multiplex Polymerase Chain Reaction, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea69219c9bf006f3f324e42a14749b0bTest
https://doi.org/10.1016/j.jbiotec.2019.04.025Test -
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المؤلفون: Ana Arnanz, Ibrahim Elkhatib, N. De Munck, M H Fatemi, Laura Melado, A Bayram, Alberto Liñán, Barbara Lawrenz
المصدر: J Assist Reprod Genet
مصطلحات موضوعية: 0301 basic medicine, Adult, Monosomy, Fertilization in Vitro, Biology, Single Center, Andrology, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Pregnancy, Genetics, medicine, Humans, Blastocyst, Embryo Implantation, Genetic Testing, Genetics (clinical), Preimplantation Diagnosis, Genetic testing, Segmental duplication, Retrospective Studies, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Obstetrics and Gynecology, Embryo, General Medicine, medicine.disease, Aneuploidy, Human genetics, Embryo Biology, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, embryonic structures, Female, Ploidy, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff12c1e5e68a61c0d6906d5c90dd6429Test
https://pubmed.ncbi.nlm.nih.gov/33742344Test -
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المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó
المصدر: European journal of medical genetics. 63(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test -
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المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest -
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المؤلفون: Jisen Zhang, Yibin Wang, Xingtan Zhang, Lihua Zhao, Rui Qi, Shuai Chen, Ray Ming, Haibao Tang, Xiao-Yong Chen, Yan Shi, Yi lun Lee, Gang Wang, Jing Lin, Yann-Rong Lin, Xiaokai Ma, Jishan Lin, Xiuming Xu, Shengcheng Zhang, Rong Wang, Jin Chen, Fang Deng, Yang Yang, Xuequn Chen, Zhenyang Liao, Ping Wen, Xindan Xu
المصدر: Cell. 183(4)
مصطلحات موضوعية: Population, Wasps, Ficus, Banyan, Genes, Plant, Genome, Plant Roots, General Biochemistry, Genetics and Molecular Biology, Chromosomes, Plant, Trees, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Gene Expression Regulation, Plant, Aerial root, Animals, education, Pollination, Phylogeny, 030304 developmental biology, Mutualism (biology), 0303 health sciences, education.field_of_study, Volatile Organic Compounds, Sex Chromosomes, biology, Indoleacetic Acids, Agamous, Gene Expression Profiling, fungi, food and beverages, Molecular Sequence Annotation, biology.organism_classification, Biological Evolution, Evolutionary biology, DNA Transposable Elements, Female, 030217 neurology & neurosurgery, Fig wasp, Genome, Plant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6cd38d90c01763f316a9045bc7f6321Test
https://pubmed.ncbi.nlm.nih.gov/33035453Test -
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المؤلفون: Tomáš Szemes, Jaroslav Budis, Jan Radvanszky, Marcel Kucharik, Frantisek Duris, Zuzana Kubiritova, Ondrej Pös
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 18, p 4403 (2019)
International Journal of Molecular Sciencesمصطلحات موضوعية: 0301 basic medicine, Slovakia, DNA Copy Number Variations, Population, Computational biology, Biology, Catalysis, DNA sequencing, Inorganic Chemistry, Structural variation, lcsh:Chemistry, 03 medical and health sciences, 0302 clinical medicine, Segmental Duplications, Genomic, Pregnancy, Prenatal Diagnosis, Humans, Copy-number variation, Physical and Theoretical Chemistry, education, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, Sequence Deletion, non-invasive prenatal testing, next generation sequencing, education.field_of_study, Autosome, Whole Genome Sequencing, population study, Communication, Organic Chemistry, Chromosome Mapping, High-Throughput Nucleotide Sequencing, General Medicine, DNA, Computer Science Applications, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Population study, Identification (biology), Human genome, Female, 030217 neurology & neurosurgery, copy number variants
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16e0e5d7e3936ee80dbaee15413ec362Test
https://www.mdpi.com/1422-0067/20/18/4403Test