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1دورية أكاديمية
المؤلفون: Santos, Silvana Cristina dos, Melo, Uirá Souto, Lopes, Simone Silva dos Santos, Weller, Mathias, Kok, Fernando
المصدر: Ciência & Saúde Coletiva. April 2013 18(4)
مصطلحات موضوعية: Deficiência, Epidemiologia, Nordeste brasileiro, Endogamia
وصف الملف: text/html
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2رسالة جامعية
المؤلفون: Melo, Uirá Souto
مرشدي الرسالة: Mingroni Netto, Regina Celia
مصطلحات موضوعية: Epidemiologia, Epidemiology, GJB2, Hearing loss, Surdez
وصف الملف: application/pdf
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3
المؤلفون: Paiva, Anderson Rodrigues Brandão de, Melo, Uirá Souto, Freua, Fernando, Dória, Denise, Cabral, Katiane Sayão Souza, Macedo-Souza, Lúcia Inês, Lucato, Leandro Tavares, Kok, Fernando
المصدر: Arquivos de Neuro-Psiquiatria. April 2018 76(4)
وصف الملف: text/html
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4دورية 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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5
المؤلفون: Melo, Uirá Souto
مرشدي الرسالة: Kok, Fernando
مصطلحات موضوعية: Estudo funcional, Functional study, KLC2, Paraplegia espástica, Síndrome SPOAN, Spastic Paraplegia, SPOAN syndrome
وصف الملف: application/pdf
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6دورية أكاديميةEnhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
المؤلفون: Melo, Uirá Souto, Jatzlau, Jerome, Prada-Medina, Cesar A, Flex, Elisabetta, Hartmann, Sunhild, Ali, Salaheddine, Schöpflin, Robert, Bernardini, Laura, Ciolfi, Andrea, Moeinzadeh, M-Hossein, Klever, Marius-Konstantin, Altay, Aybuge, Vallecillo-García, Pedro, Carpentieri, Giovanna, Delledonne, Massimo, Ort, Melanie-Jasmin, Schwestka, Marko, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo, Gossen, Manfred, Strunk, Dirk, Geißler, Sven, Mundlos, Stefan, Stricker, Sigmar, Knaus, Petra, Giorgio, Elisa, Spielmann, Malte
المساهمون: Melo, Uirá Souto, Jatzlau, Jerome, Prada-Medina, Cesar A, Flex, Elisabetta, Hartmann, Sunhild, Ali, Salaheddine, Schöpflin, Robert, Bernardini, Laura, Ciolfi, Andrea, Moeinzadeh, M-Hossein, Klever, Marius-Konstantin, Altay, Aybuge, Vallecillo-García, Pedro, Carpentieri, Giovanna, Delledonne, Massimo, Ort, Melanie-Jasmin, Schwestka, Marko, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo, Gossen, Manfred, Strunk, Dirk, Geißler, Sven, Mundlos, Stefan, Stricker, Sigmar, Knaus, Petra, Giorgio, Elisa, Spielmann, Malte
مصطلحات موضوعية: Topologically associating domain, ARHGAP36, bone formation, enhancer, chromatin conformation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37041138; volume:14; issue:2034; firstpage:1; lastpage:13; numberofpages:13; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/2318/1903972Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152263467; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090176Test/
الإتاحة: https://doi.org/10.1038/s41467-023-37585-8Test
https://hdl.handle.net/2318/1903972Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090176Test/ -
7دورية أكاديمية
المؤلفون: Melo, Uirá Souto, Jatzlau, Jerome, Prada-Medina, Cesar A., Flex, Elisabetta, Hartmann, Sunhild, Ali, Salaheddine, Schöpflin, Robert, Bernardini, Laura, Ciolfi, Andrea, Moeinzadeh, M-Hossein, Klever, Marius-Konstantin, Altay, Aybuge, Vallecillo-García, Pedro, Carpentieri, Giovanna, Delledonne, Massimo, Ort, Melanie-Jasmin, Schwestka, Marko, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo, Gossen, Manfred, Strunk, Dirk, Geißler, Sven, Mundlos, Stefan, Stricker, Sigmar, Knaus, Petra, Giorgio, Elisa, Spielmann, Malte
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-023-42123-7Test
https://www.nature.com/articles/s41467-023-42123-7.pdfTest
https://www.nature.com/articles/s41467-023-42123-7Test -
8دورية أكاديمية
المؤلفون: Baudic, Manon, Murata, Hiroshige, Bosada, Fernanda M., Melo, Uirá Souto, Aizawa, Takanori, Lindenbaum, Pierre, van der Maarel, Lieve E., Guedon, Amaury, Baron, Estelle, Fremy, Enora, Foucal, Adrien, Ishikawa, Taisuke, Ushinohama, Hiroya, Jurgens, Sean J., Choi, Seung Hoan, Kyndt, Florence, Le Scouarnec, Solena, Wakker, Vincent, Thollet, Aurélie, Rajalu, Annabelle
المصدر: Nature Communications; 4/20/2024, Vol. 15 Issue 1, p1-15, 15p
مصطلحات موضوعية: BINDING sites, SINOATRIAL node, GENETIC regulation, TRANSCRIPTION factors, CHROMATIN, DYSPLASIA
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9دورية أكاديمية
المؤلفون: Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan
المصدر: Schöpflin , R , Melo , U S , Moeinzadeh , H , Heller , D , Laupert , V , Hertzberg , J , Holtgrewe , M , Alavi , N , Klever , M K , Jungnitsch , J , Comak , E , Türkmen , S , Horn , D , Duffourd , Y , Faivre , L , Callier , P , Sanlaville , D , Zuffardi , O , Tenconi , R , Kurtas , N E , Giglio , S , Prager , B , Latos-Bielenska , A , Vogel , I , ....
الإتاحة: https://doi.org/10.1038/s41467-022-34053-7Test
https://pure.au.dk/portal/en/publications/2bf0568a-6234-433b-a725-b64e0a62318eTest
http://www.scopus.com/inward/record.url?scp=85140915097&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel
المصدر: http://lobid.org/resources/99370671251406441Test#!, 140(10):1459-1469.
مصطلحات موضوعية: Female [MeSH], Lung/abnormalities [MeSH], Organogenesis/genetics [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Fetus [MeSH], Humans [MeSH], Molecular Medicine, Evolution, Molecular [MeSH], Genome, Human [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Lung Diseases/genetics [MeSH], Gene Function, Cadaver [MeSH], Lung/growth, Genetic Variation [MeSH], Pregnancy [MeSH], Lung/ultrastructure [MeSH], Human Genetics
العلاقة: https://repository.publisso.de/resource/frl:6446828Test; https://doi.org/10.1007/s00439-021-02344-6Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539Test/
الإتاحة: https://doi.org/10.1007/s00439-021-02344-6Test
https://repository.publisso.de/resource/frl:6446828Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539Test/
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