المؤلفون: Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Liedtke, Daniel

المساهمون: Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Liedtke, Daniel

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/142700Test; 593

الإتاحة: https://doi.org/10.1186/s40246-024-00593-wTest
https://resolver.sub.uni-goettingen.de/purl?gro-2/142700Test

المؤلفون: Flandin, Sophie, Hofrichter, Michaela A. H., Schröder, Jörg, Tovornik, Stefanie, Koparir, Asuman, Shehata-Dieler, Wafaa, Haaf, Thomas, Hackenberg, Stephan, Rak, Kristen

المصدر: 95. Jahresversammlung Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V., Bonn ; Laryngo-Rhino-Otologie ; ISSN 1438-8685

الإتاحة: https://doi.org/10.1055/s-0044-1784354Test

المؤلفون: Flandin, Sophie, Hofrichter, Michaela A. H., Schröder, Jörg, Tovornik, Stefanie, Koparir, Asuman, Shehata-Dieler, Wafaa, Haaf, Thomas, Hackenberg, Stephan, Rak, Kristen

المصدر: 95th Annual Meeting German Society of Oto-Rhino-Laryngology, Head and Neck Surgery e. V., Bonn ; Laryngo-Rhino-Otologie ; ISSN 1438-8685

الإتاحة: https://doi.org/10.1055/s-0044-1785028Test

المؤلفون: Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, La Arenas-Sordo, Maria de Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26775Test; urn:nbn:de:bvb:20-opus-267750; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-267750Test; https://doi.org/10.1007/s00439-021-02303-1Test; https://opus.bibliothek.uni-wuerzburg.de/files/26775/Bahena_Human.pdfTest

الإتاحة: https://doi.org/10.1007/s00439-021-02303-1Test
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26775Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-267750Test
https://opus.bibliothek.uni-wuerzburg.de/files/26775/Bahena_Human.pdfTest

المؤلفون: Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, Arenas-Sordo, Maria de la Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas

المصدر: http://lobid.org/resources/99370671251406441Test#!, 141(3-4):785-803.

مصطلحات موضوعية: Mutation [MeSH], Humans [MeSH], Molecular Medicine, Iran [MeSH], Original Investigation, Pedigree [MeSH], Usher Syndromes/diagnosis [MeSH], Metabolic Diseases, Usher Syndromes/genetics [MeSH], Gene Function, Phenotype [MeSH], The Molecular Genetics of Hearing and Deafness, Retinal Degeneration/genetics [MeSH], Human Genetics

العلاقة: https://repository.publisso.de/resource/frl:6446836Test; https://doi.org/10.1007/s00439-021-02303-1Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035000Test/

الإتاحة: https://doi.org/10.1007/s00439-021-02303-1Test
https://repository.publisso.de/resource/frl:6446836Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035000Test/

المؤلفون: Villar‐quiles, Rocío, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie, A, Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce‐hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma, B, Beggs, Alan, H, Servais, Laurent, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband‐goulet, Isabelle, Ferreiro, Ana

المساهمون: Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Département de neurologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School Boston (HMS), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Biruni University, Children's University Hospital Queen Fabiola Bruxelles, Belgium, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives Bordeaux (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge = Bellvitge Biomedical Research Institute (IDIBELL)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: SIGNAL COINTEGRATOR 1, TRANSCRIPTION COACTIVATOR, MUSCULAR-DYSTROPHY, MUSCLE, D3, GENE, PROLIFERATION, ABNORMALITIES, ADIPOGENESIS, DISORDERS, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31794073; hal-02957769; https://hal.science/hal-02957769Test; https://hal.science/hal-02957769/documentTest; https://hal.science/hal-02957769/file/ANA-19-1044.R1_Proof_hi.pdfTest; PUBMED: 31794073; WOS: 000504509700001

الإتاحة: https://doi.org/10.1002/ana.25660Test
https://hal.science/hal-02957769Test
https://hal.science/hal-02957769/documentTest
https://hal.science/hal-02957769/file/ANA-19-1044.R1_Proof_hi.pdfTest

المؤلفون: Villar-Quiles, Rocío Nur, Catervi, Fabio, Cabet, Eva, Juntas-Morales, Raul, Genetti, Casie C.A., Gidaro, Teresa, Koparir, Asuman, Yüksel, Adnan, Coppens, Sandra, Deconinck, Nicolas, Pierce-Hoffman, Emma, Lornage, Xavière, Durigneux, Julien, Laporte, Jocelyn, Rendu, John, Romero, Norma Beatriz, Beggs, Alan A.H., Servais, Lara, Cossée, Mireille, Olivé, Montse, Böhm, Johann, Duband-Goulet, Isabelle, Ferreiro, Ana

المصدر: Annals of neurology, 87 (2

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adult, Amino Acid Transport System y+ -- metabolism -- physiology, Cell Cycle -- physiology, Cells, Cultured, Child, Preschool, Female, Fibroblasts -- physiology, Humans, Infant, Male, Middle Aged, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Muscular Diseases -- genetics -- physiopathology, Mutation, Pedigree, Phenotype, Transcription Factors -- genetics

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1002/ana.25660; uri/info:pmid/31794073; uri/info:scp/85077147655; uri/info:pmcid/PMC6980348; https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307754Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/307754/3/ASC1myopathy-Villar-Quiles.pdfTest

المؤلفون: Koparir, Asuman, Karatas, Omer Faruk, Yilmaz, Seda Salman, Suer, Ilknur, Ozer, Bugra, Yuceturk, Betul, Ozen, Mustafa

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179(4) 579-587

العلاقة: https://aperta.ulakbim.gov.tr/record/114164Test; oai:zenodo.org:114164

الإتاحة: https://aperta.ulakbim.gov.tr/record/114164Test

المؤلفون: Koparır, Asuman, KOPARIR, Erkan, ÖZEN, Mustafa

المساهمون: İstanbul Üniversitesi ,, 624948

مصطلحات موضوعية: Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Yaşam Bilimleri (LIFE)

العلاقة: KOPARIR E., Koparır A., ÖZEN M., The Functions and Roles of RB1 in Cancer, "Tumor Suppressor Genes: Functions, Regulation and Health Effects", Gunduz M, Gunduz E, Editör, Nova Book, New York, ss.1, 2013; av_73039588-2921-44f3-a9cf-c18469fe6162; vv_1032021; http://hdl.handle.net/20.500.12627/79136Test

الإتاحة: https://doi.org/20.500.12627/79136Test
https://hdl.handle.net/20.500.12627/79136Test

المؤلفون: Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Özkınay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Gulec, Elif Yilmaz, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Gambin, Tomasz, Akdemir, Zeynep Coban, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Bozdogan, Sevcan Tug, Aslan, Huseyin, Aktas, Dilek, Alikasifoglu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neuron; https://hdl.handle.net/11454/51763Test; https://doi.org/10.1016/j.neuron.2015.09.048Test; 88; 499; 513

الإتاحة: https://doi.org/10.1016/j.neuron.2015.09.048Test
https://hdl.handle.net/11454/51763Test