-
1
المؤلفون: N.O. Maznyk, T.S. Sypko, V.P. Starenkyi, I.M. Hukova, S.V. Artiukh, L.V. Cherkasko
المصدر: Ukrainian Journal of Radiology and Oncology; Vol. 29 No. 4 (2021): Ukrainian Journal of Radiology and Oncology; 48-64
Український радіологічний та онкологічний журнал; Том 29 № 4 (2021): Український радіологічний та онкологічний журнал; 48-64مصطلحات موضوعية: lymphocytes, Radiological and Ultrasound Technology, геномні порушення, аберації хромосом, external beam radiation therapy, Education, chromosome aberrations, Oncology, дистанційна променева терапія, reirradiation, Radiology, Nuclear Medicine and imaging, oncological patients, genomic disorders, онкологічні хворі, повторне опромінення, лімфоцити
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f229da83346825e0af26abaaab9aac3eTest
https://doi.org/10.46879/ukroj.4.2021.48-64Test -
2
المصدر: American journal of human genetics, vol 109, iss 8
مصطلحات موضوعية: DNA Copy Number Variations, systematic phenotyping, Intellectual and Developmental Disabilities (IDD), Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, iPSCs, Patient Advocacy, community engagement, infrastructure, Medical and Health Sciences, patient centered, team science, Genetics, Humans, genomic disorders, CNVs, Genetics & Heredity, neurological, Genome, neurodevelopment, Human Genome, Neurosciences, structural variants, Biological Sciences, Brain Disorders, biobank, Phenotype, copy-number variants, inclusion, Neurodevelopmental Disorders, patient led, long-read sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::cd8f9d889d382bba628948109c91d0b8Test
https://escholarship.org/uc/item/3tc3h13fTest -
3
المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla
المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biologyمصطلحات موضوعية: 0301 basic medicine, Genome instability, Infertility, Rearrangements, DNA repair, DNA damage, Embryonic Development, Aneuploidy, Biology, DNA damage response, Genome, Article, Genomic Instability, 03 medical and health sciences, 0302 clinical medicine, Genome editing, medicine, Humans, Human oocytes and embryos, CNVs, Genetics, Genomic disorders, Cell Biology, medicine.disease, Germ Cells, 030104 developmental biology, Homologous recombination, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test -
4
المؤلفون: Lisanne Vervoort, Joris Robert Vermeesch
المصدر: Genes. 13:2101
مصطلحات موضوعية: Genetics & Heredity, Science & Technology, Genome, Human, SEGMENTAL DUPLICATIONS, DELETION SYNDROME, SEQUENCE, PATIENT, NO OVERLAP, REGION, Segmental Duplications, Genomic, low copy repeats, DiGeorge Syndrome, Genetics, Humans, DIGEORGE-SYNDROME, 22811.2 deletion syndrome, MOLECULAR CHARACTERIZATION, BREAKPOINTS, TRANSLOCATIONS, genomic disorders, Life Sciences & Biomedicine, Genetics (clinical)
وصف الملف: Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1aaab19ea4a098fc4be4c7188dc950Test
https://doi.org/10.3390/genes13112101Test -
5
المؤلفون: Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina
المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, induced pluripotent stem cells, Chromosome Transfer, Genetic enhancement, chromosome transplantation, Biology, medicine.disease_cause, Article, chromosome transfer, Viral vector, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, lcsh:QH573-671, genomic disorders, Induced pluripotent stem cell, Molecular Biology, X chromosome, Mutation, lcsh:Cytology, Chromosome, Transplantation, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, genetic therapy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92Test
https://doi.org/10.1016/j.omtm.2020.01.003Test -
6
المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield
المساهمون: Shendure, J
المصدر: Genetics, vol 217, iss 2
Geneticsمصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test -
7
المؤلفون: Flora Y. Wong, Nicole J. Lake, Michael T. Ryan, Anne Marie E. Welch, Kazuhiro R. Nitta, Sarah E. Calvo, Yoshihito Kishita, Daniella H Hock, David A. Stroud, Simone Tregoning, Gareth Baynam, Michael Rodriguez, André E. Minoche, Susan Arbuckle, Kaustuv Bhattacharya, Yasushi Okazaki, David J. Amor, Akira Ohtake, George McGillivray, John Christodoulou, R. Jeroen Vermeulen, Mary Louise Freckmann, Atsuko Imai-Okazaki, Shanti Balasubramaniam, Carolyn Ellaway, Luke E. Formosa, David R. Thorburn, Marjo S van der Knaap, Alison G. Compton, Rocio Rius, Janice M. Fletcher, Mark J. Cowley, Cas Simons, Ann E. Frazier, Kei Murayama, Alexis Lucattini, Ryan J. Taft, Barry Lewis, David Francis, Simon Sadedin, Sumudu S.C. Amarasekera, Jafar S. Jabbari, Vamsi K. Mootha, Min Wang, Esko Wiltshire
المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Functional Genomics, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ', Med, vol. 2, no. 1, pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004Test
Med, 2(1), 49-73.e10. Cell Pressمصطلحات موضوعية: quantitative proteomics, COMPUTATIONAL PLATFORM, Translation to Patients, Mitochondrial disease, Pontocerebellar hypoplasia, segmental duplication, Locus (genetics), Biology, HIGH-THROUGHPUT, Genome, GENOMIC DISORDERS, SDG 3 - Good Health and Well-being, medicine, de novo duplication, genomics, Copy-number variation, COPY-NUMBER VARIANTS, ATAD3, Exome sequencing, Segmental duplication, Genetics, ARCHITECTURE, MEMBRANE-PROTEIN, MUTATIONS, CHOLESTEROL, General Medicine, DNA, medicine.disease, COMPLEX I DEFICIENCY, mitochondrial disease, perinatal death, Human genome, cardiomyopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f10f2b85c45465523a075c89ba3ffTest
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9dTest -
8
المؤلفون: Brittany Grommisch, Michele Spencer-Manzon, Qinghua Zhou, Peining Li, James L. McGrath, Allen E. Bale, Hongyan Chai, Maurice J. Mahoney, Jiadi Wen, Fang Xu, Hui Zhang, Autumn DiAdamo
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, pathogenic copy number variants, lcsh:QH426-470, Population, 03 medical and health sciences, 0302 clinical medicine, microdeletions and microduplications, DiGeorge syndrome, Turner syndrome, Genetics, medicine, diagnostic accuracy and efficacy, Copy-number variation, prenatal and pediatric diagnosis, education, Genetics (clinical), Original Research, Fetus, education.field_of_study, medicine.diagnostic_test, business.industry, recurrent genomic disorders, medicine.disease, relative frequency, lcsh:Genetics, chromosomal abnormalities, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, abnormality detection rate, business, Fluorescence in situ hybridization, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a0e89ec6d6e5493ca4359bb6826d1eTest
https://doi.org/10.3389/fgene.2019.01162Test -
9
المؤلفون: Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino
المصدر: Clinical Genetics. 92:415-422
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test -
10
المؤلفون: Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk
المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Microcirculation, Paediatric Nephrology
المصدر: Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Groupمصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, endocrine system diseases, Kidney, 0302 clinical medicine, Copy-number variation, deletion, Urinary Tract, Obstructive uropathy, Genetics, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genomics, digeorge-syndrome, Microdeletion syndrome, 3. Good health, medicine.anatomical_structure, Female, vitamin-a, branching morphogenesis, Chromosome Deletion, candidate genes, renal replacement therapy, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urinary system, Locus (genetics), Biology, Vesicoureteral reflux, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, genomic disorders, 030304 developmental biology, Vesico-Ureteral Reflux, disease, Extramural, rare variants, medicine.disease, mutations, Urogenital Abnormalities, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277Test
https://ruj.uj.edu.pl/xmlui/handle/item/108818Test
