المؤلفون: Yüksel, Adnan

المساهمون: Tıp Fakültesi

مصطلحات موضوعية: Duchenne Müsküler Distrofi, Gen Terapi, Gen Terapisi, Spinal Müsküler Atrofi, Viral Vektörler

العلاقة: Moleküler Biyoloji ve Genetik : Sağlık Alanında ve Biyoteknolojide İleri Uygulamalar; Kitap Bölümü - Ulusal; https://hdl.handle.net/20.500.12445/3335Test; 453; 477

الإتاحة: https://doi.org/20.500.12445/3335Test
https://hdl.handle.net/20.500.12445/3335Test

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: Alagöz, Meryem, Kherad, Nasim, Türkmen, Selda, Bulut, Hatice, Yüksel, Adnan

المساهمون: İÜC, Cerrahpaşa Tıp Fakültesi, Temel Tıp Bilimleri Bölümü

مصطلحات موضوعية: 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, serine active site-containing protein 1, SERAC1 gene, whole-exome sequencing, mutation, rare disease

وصف الملف: application/pdf

العلاقة: Experimental And Therapeutic Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3892/etm.2020.8658Test; https://hdl.handle.net/20.500.12831/227Test; 19; 3505; 3512

الإتاحة: https://doi.org/10.3892/etm.2020.8658Test
https://doi.org/20.500.12831/227Test
https://hdl.handle.net/20.500.12831/227Test

المؤلفون: Alagöz, Meryem, Günger, Ezgi, Yüksel, Adnan

المساهمون: Mühendislik ve Doğa Bilimleri Fakültesi

مصطلحات موضوعية: Mental Retardasyon, SETBP1, Yeni Nesil Dizileme (YND), Tüm Exom Dizileme, Mental Retardation, Next Generation Sequencing (NGS), Whole Exom Sequencing

وصف الملف: application/pdf

العلاقة: https://doi.org/10.31832/smj.589375Test; Sakarya Tıp Dergisi; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12445/2108Test; 715; 720

الإتاحة: https://doi.org/20.500.12445/2108Test
https://doi.org/10.31832/smj.589375Test
https://hdl.handle.net/20.500.12445/2108Test

المؤلفون: Yüksel, Adnan, DEVİREN, AYHAN

المساهمون: İstanbul Üniversitesi ,, 429139

مصطلحات موضوعية: Sağlık Bilimleri, Tıp, Klinik Tıp (MED)

العلاقة: DEVİREN A., Yüksel A., Genetik ve Nöroloji, "Çocuk Nörolojisi", Aysun S, Anlar B, Altunbaşak Ş, Deda G, Serdaroğlu A., Editör, Alp Ofset Matbaacılık Makina Sanayi Ve Ticaret Ltd. Şti, Ankara, ss.714-749, 2006; av_1be0d135-59f2-404c-9a0b-70746b0dc5b3; vv_1032021; http://hdl.handle.net/20.500.12627/24009Test

الإتاحة: https://doi.org/20.500.12627/24009Test
https://hdl.handle.net/20.500.12627/24009Test

المؤلفون: YÜKSEL, Adnan, ÖZEN, Mustafa, Karaca, Ender

المساهمون: 624977

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

العلاقة: Turkiye Klinikleri J Cardiol-Special Topics; ÖZEN M., Karaca E., YÜKSEL A., "Genetics Of Cardiomyopathies", Turkiye Klinikleri J Cardiol-Special Topics, cilt.4, ss.5-12, 2011; av_4805a2ca-b01c-44b7-afdf-dbe4fc76c476; vv_1032021; http://hdl.handle.net/20.500.12627/51935Test; 12

الإتاحة: https://doi.org/20.500.12627/51935Test
https://hdl.handle.net/20.500.12627/51935Test

المؤلفون: Alagöz, Meryem, Kherad, Nasim, Bozkurt, Süreyya, Yüksel, Adnan

المساهمون: Mühendislik ve Doğa Bilimleri Fakültesi

مصطلحات موضوعية: EIEE, Encephalopathy, Seizure, NGS, KCNT2 Gene, Epileptic

وصف الملف: application/pdf

العلاقة: https://doi.org/10.18388/abp.2020_5364Test; Acta Biochimica Polonica; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12445/1415Test; 67; 431; 434

الإتاحة: https://doi.org/20.500.12445/1415Test
https://doi.org/10.18388/abp.2020_5364Test
https://hdl.handle.net/20.500.12445/1415Test

المؤلفون: Alagöz, Meryem, Kherad, Nasim, Günger, Ezgi, Kaymaz, Selin, Yüksel, Adnan

المساهمون: Mühendislik ve Doğa Bilimleri Fakültesi, orcid:0000-0002-6243-2146

مصطلحات موضوعية: Seizure, Mental Retardation, CIC Mutation, Glucose-6-Phosphate Dehydrogenase Deficiency, G6PD

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1007/s12031-020-01614-8Test; Journal of Molecular Neuroscience; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12445/1372Test

الإتاحة: https://doi.org/20.500.12445/1372Test
https://doi.org/10.1007/s12031-020-01614-8Test
https://hdl.handle.net/20.500.12445/1372Test

المؤلفون: yüksel, adnan, güven, mehmet, onaran, ilhan, cengiz, müjgan, İNCE, Erdal, ulutin, turgut, bayram-gürel, çiğdem, bolat, fuat

المساهمون: İstanbul Üniversitesi ,, 601263

مصطلحات موضوعية: Klinik Tıp (MED), Tıp, Sağlık Bilimleri

العلاقة: ulutin t., bayram-gürel ç., İNCE E., bolat f., güven m., onaran i., yüksel a., cengiz m., "Ateroskleroz patogenezinde fibrinolitik sistemin rolü", 5. Ulusal Tıbbi Biyoloji Kongresi, İzmir, Türkiye, 21 - 24 Eylül 1998, ss.27; vv_1032021; av_07d48588-d5dc-469e-b2e8-27c4fbb2accc; http://hdl.handle.net/20.500.12627/11076Test

الإتاحة: https://doi.org/20.500.12627/11076Test
https://hdl.handle.net/20.500.12627/11076Test