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1دورية أكاديمية
المؤلفون: Okonechnikov, Konstantin, Camgöz, Aylin, Chapman, Owen, Wani, Sameena, Park, Donglim Esther, Hübner, Jens-Martin, Chakraborty, Abhijit, Pagadala, Meghana, Bump, Rosalind, Chandran, Sahaana, Kraft, Katerina, Acuna-Hidalgo, Rocio, Reid, Derek, Sikkink, Kristin, Mauermann, Monika, Juarez, Edwin F, Jenseit, Anne, Robinson, James T, Pajtler, Kristian W, Milde, Till, Jäger, Natalie, Fiesel, Petra, Morgan, Ling, Sridhar, Sunita, Coufal, Nicole G, Levy, Michael, Malicki, Denise, Hobbs, Charlotte, Kingsmore, Stephen, Nahas, Shareef, Snuderl, Matija, Crawford, John, Wechsler-Reya, Robert J, Davidson, Tom Belle, Cotter, Jennifer, Michaiel, George, Fleischhack, Gudrun, Mundlos, Stefan, Schmitt, Anthony, Carter, Hannah, Michealraj, Kulandaimanuvel Antony, Kumar, Sachin A, Taylor, Michael D, Rich, Jeremy, Buchholz, Frank, Mesirov, Jill P, Pfister, Stefan M, Ay, Ferhat, Dixon, Jesse R, Kool, Marcel, Chavez, Lukas
المصدر: Nature Communications. 14(1)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Pediatric, Orphan Drug, Pediatric Cancer, Brain Disorders, Cancer, Rare Diseases, Human Genome, Brain Cancer, Neurosciences, Child, Humans, Child, Preschool, Neoplasm Recurrence, Local, Chromosomes, Chromosome Mapping, Ependymoma, Genome, Chromatin
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9v35f941Test
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2دورية أكاديمية
المؤلفون: Melo, Uirá Souto, Schöpflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, Björn, Holtgrewe, Manuel, Klever, Marius-Konstantin, Türkmen, Seval, Heinrich, Verena, Pluym, Ilina Datkhaeva, Matoso, Eunice, Bernardo de Sousa, Sérgio, Louro, Pedro, Hülsemann, Wiebke, Cohen, Monika, Dufke, Andreas, Latos-Bieleńska, Anna, Vingron, Martin, Kalscheuer, Vera, Quintero-Rivera, Fabiola, Spielmann, Malte, Mundlos, Stefan
المصدر: American Journal of Human Genetics. 106(6)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Human Genome, Chromatin Assembly and Disassembly, Chromosome Breakpoints, Chromosomes, Human, Cohort Studies, Developmental Disabilities, Genome, Human, Humans, Molecular Conformation, SOX9 Transcription Factor, Segmental Duplications, Genomic, Translocation, Genetic, Hi-C, chromosome conformation capture, cytogenetics, developmental disorders, ectopic enhancer-promoter interactions, gene misregulation, neo-TAD, topologically associating domains, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6rv3s0s7Test
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3تقرير
المؤلفون: Jain, Shantanu, Trinidad, Marena, Nguyen, Thanh Binh, Jones, Kaiya, Neto, Santiago Diaz, Ge, Fang, Glagovsky, Ailin, Jones, Cameron, Moran, Giankaleb, Wang, Boqi, Rahimi, Kobra, Çalıcı, Sümeyra Zeynep, Cedillo, Luis R, Berardelli, Silvia, Özden, Buse, Chen, Ken, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Rana, Sadhna, Pradhan, Swatantra, Srinivasan, Rajgopal, Sajeed, Rakshanda, Joshi, Dinesh, Faraggi, Eshel, Jernigan, Robert, Kloczkowski, Andrzej, Xu, Jierui, Song, Zigang, Özkan, Selen, Padilla, Natàlia, de la Cruz, Xavier, Acuna-Hidalgo, Rocio, Grafmüller, Andrea, Jiménez Barrón, Laura T, Manfredi, Matteo, Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita, Sun, Yuanfei, Zhu, Shaowen, Shen, Yang, Pucci, Fabrizio, Rooman, Marianne, Cia, Gabriel, Raimondi, Daniele, Hermans, Pauline, Kwee, Sofia, Chen, Ella, Astore, Courtney, Kamandula, Akash, Pejaver, Vikas, Ramola, Rashika, Velyunskiy, Michelle, Zeiberg, Daniel, Mishra, Reet, Sterling, Teague, Goldstein, Jennifer L, Lugo-Martinez, Jose, Kazi, Sufyan, Li, Sindy, Long, Kinsey, Brenner, Steven E, Bakolitsa, Constantina, Radivojac, Predrag, Suhr, Dean, Suhr, Teryn, Clark, Wyatt T
المصدر: bioRxiv ; ISSN:2692-8205
العلاقة: https://doi.org/10.1101/2024.05.16.594558Test; https://pubmed.ncbi.nlm.nih.gov/38798479Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11118473Test/
الإتاحة: https://doi.org/10.1101/2024.05.16.594558Test
https://pubmed.ncbi.nlm.nih.gov/38798479Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11118473Test/ -
4دورية أكاديمية
المؤلفون: van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Maerzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Pena, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander
المصدر: van de Putte , R , Dworschak , G C , Brosens , E , Reutter , H M , Marcelis , C L M , Acuna-Hidalgo , R , Kurtas , N E , Steehouwer , M , Dunwoodie , S L , Schmiedeke , E , Maerzheuser , S , Schwarzer , N , Brooks , A S , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , M F , Bates , M D , Levitt , M A , ....
مصطلحات موضوعية: anorectal malformations, duane-radial ray syndrome, esophageal atresia, genetics-first, molecular inversion probe, Opitz-G, BBB syndrome, townes-brocks syndrome, VATER/VACTERL ASSOCIATION, MOLECULAR-BASIS, COPY NUMBER, MALFORMATIONS, MUTATION, FGF8, EXPRESSION, NOTOCHORD, SPECTRUM, DEFECTS
الإتاحة: https://doi.org/10.3389/fped.2020.00310Test
https://cris.maastrichtuniversity.nl/en/publications/4c883f98-8e90-457f-97ee-ea0a82095430Test -
5دورية أكاديمية
المؤلفون: van de Putte, Romy, Wijers, Charlotte H. W., Reutter, Heiko, Vermeulen, Sita H., Marcelis, Carlo L. M., Brosens, Erwin, Broens, Paul M. A., Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E. J., de Klein, Annelies, Brooke, Alice S., Hofstra, Robert M. W., Holsink, Sophie A. C., van Der Zanden, Loes F. M., Galesloot, Tessel E., Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, van de Vorst, Maartje, Kiemeney, Lambertus A., Garcia-Barcelo, Maria-Merce, de Blaauw, Ivo, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M.
المصدر: van de Putte , R , Wijers , C H W , Reutter , H , Vermeulen , S H , Marcelis , C L M , Brosens , E , Broens , P M A , Homberg , M , Ludwig , M , Jenetzky , E , Zwink , N , Sloots , C E J , de Klein , A , Brooke , A S , Hofstra , R M W , Holsink , S A C , van Der Zanden , L F M , Galesloot , T E , Tam , P K-H , ....
مصطلحات موضوعية: BIRTH-DEFECTS, CANDIDATE GENE, RISK, ANOMALIES, EXCLUSION, REGISTRY, OBESITY, FGF10
الإتاحة: https://doi.org/10.1371/journal.pone.0217477Test
https://cris.maastrichtuniversity.nl/en/publications/c02d4041-b449-4944-b8ac-e9ecbf057226Test -
6دورية أكاديمية
المؤلفون: Okonechnikov, Konstantin, Hübner, Jens-Martin, Chapman, Owen, Chakraborty, Abhijit, Bump, Rosalind, Chandran, Sahaana, Kraft, Katerina, Acuna Hidalgo, Rocio, Mundlos, Stefan, Coufal, Nicole, Levy, Michael, Crawford, John, Ay, Ferhat, Mesirov, Jill, Pajtler, Kristian, Dixon, Jesse, Pfister, Stefan, Kool, Marcel, Chavez, Lukas
المصدر: Neuro-Oncology ; volume 21, issue Supplement_6, page vi100-vi100 ; ISSN 1522-8517 1523-5866
مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology
الإتاحة: https://doi.org/10.1093/neuonc/noz175.417Test
http://academic.oup.com/neuro-oncology/article-pdf/21/Supplement_6/vi100/30634059/noz175.417.pdfTest -
7دورية أكاديمية
المؤلفون: Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J, Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S, Marguet, Florent, Laquerrière, Annie, Morris, Chris M, Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F, Veltman, Joris A, Hoischen, Alexander
مصطلحات موضوعية: Alzheimer, Mosaicism, Mutation, Post-zygotic, Prion-like, Adult, Aged, Alzheimer Disease, Female, Genes, Dominant, Genetic Predisposition to Disease, Humans, Male, Middle Aged
وصف الملف: Print-Electronic; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.30475Test
https://www.repository.cam.ac.uk/handle/1810/283114Test -
8دورية أكاديمية
المؤلفون: Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya
المصدر: Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; et al (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13(3):e1006683.
مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/141844/1Test/Acuna-Hidalgo_et_al._Overlapping_SETBP1_gain-of-function.pdf; info:pmid/28346496; urn:issn:1553-7390
الإتاحة: https://doi.org/10.5167/uzh-14184410.1371/journal.pgen.1006683Test
https://www.zora.uzh.ch/id/eprint/141844Test/
https://www.zora.uzh.ch/id/eprint/141844/1Test/Acuna-Hidalgo_et_al._Overlapping_SETBP1_gain-of-function.pdf -
9دورية أكاديمية
المؤلفون: Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-Francois, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien
مصطلحات موضوعية: Developmental defects
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/54/12/830Test; http://dx.doi.org/10.1136/jmedgenet-2017-104748Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104748Test
http://jmg.bmj.com/cgi/content/short/54/12/830Test -
10دورية أكاديمية
المؤلفون: Acuna-Hidalgo, Rocio, Sengul, Hilal, Steehouwer, Marloes, van de Vorst, Maartje, Vermeulen, Sita H., Kiemeney, Lambertus A.L.M., Veltman, Joris A., Gilissen, Christian, Hoischen, Alexander
المساهمون: Netherlands Organisation for Scientific Research, European Research Council, Radboudumc PhD grant
المصدر: The American Journal of Human Genetics ; volume 101, issue 1, page 50-64 ; ISSN 0002-9297
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.05.013Test
https://api.elsevier.com/content/article/PII:S0002929717302008?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929717302008?httpAccept=text/plainTest
النص الكامل