المؤلفون: Souche, E, Beltran, S, Brosens, E, Belmont, JW, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M, de Leeuw, N, Deans, ZC, Dincer, Y, Eck, SH, Crabben, SV, Balasubramanian, M, Graessner, H, Sturm, M, Firth, H, Ferlini, A, Nabbout, R, De Baere, E, Liehr, T, Macek, M, Matthijs, G, Scheffer, H, Bauer, P, Yntema, HG, Weiss, MM

المصدر: European journal of human genetics : EJHG. 30(10):1017-1021

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149554168

المؤلفون: Souche, E., Beltran, S., Brosens, E., Belmont, J.W., Fossum, M., Riess, O., Gilissen, C., Ardeshirdavani, A., Houge, G., van Gijn, M., Clayton-Smith, J., Synofzik, M., de Leeuw, N., Deans, Z.C., Dincer, Y., Eck, S.H., van der Crabben, S., Balasubramanian, M., Graessner, H., Sturm, M., Firth, H., Ferlini, A., Nabbout, R., De Baere, E., Liehr, T., Macek, M., Matthijs, G., Scheffer, H., Bauer, P., Yntema, H.G., Weiss, M.M.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/187457/6/s41431-022-01113-x.pdf; Souche, E., Beltran, S., Brosens, E. et al. (28 more authors) (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics, 30 (9). pp. 1017-1021. ISSN 1018-4813

الاتاحة: https://eprints.whiterose.ac.uk/187457/
https://eprints.whiterose.ac.uk/187457/6/s41431-022-01113-x.pdf

المؤلفون: Dincer, Y., Sehgal, L. M.

المصدر: Phys.Lett. B521 (2001) 7-14

مصطلحات موضوعية: High Energy Physics - Phenomenology

URL الوصول: http://arxiv.org/abs/hep-ph/0108144

المؤلفون: Neuser, S, Brechmann, B, Heimer, G, Brösse, I, Schubert, S, O'Grady, L, Zech, M, Srivastava, S, Sweetser, DA, Dincer, Y, Mall, V, Winkelmann, J, Behrends, C, Darras, BT, Graham, RJ, Jayakar, P, Byrne, B, Bar-Aluma, BE, Haberman, Y, Szeinberg, A, Aldhalaan, HM, Hashem, M, Al Tenaiji, A, Ismayl, O, Al Nuaimi, AE, Maher, K, Ibrahim, S, Khan, F, Houlden, H, Ramakumaran, VS, Pagnamenta, AT, Posey, JE, Lupski, JR, Tan, W-H, ElGhazali, G, Herman, I, Muñoz, T, Repetto, GM, Seitz, A, Krumbiegel, M, Poli, MC, Kini, U, Efthymiou, S, Meiler, J, Maroofian, R, Alkuraya, FS, Abou Jamra, R, Popp, B, Ben-Zeev, B, Ebrahimi-Fakhari, D

المصدر: Human Mutation (2021) (In press).

مصطلحات موضوعية: Human Phenotype Ontology, TECPR2, neurodevelopmental disorder, sensory autonomic neuropathy, spastic paraplegia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10127587/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10127587/

المؤلفون: Kankaya S., Dincer Y.

مصطلحات موضوعية: DNA mismatch repair, DNA repair, Long-COVID, Poly (ADP-ribose) polymerase-1, SARS-CoV-2 infection

Relation: Advances in Health and Disease; Kitap Bölümü - Uluslararası; https://hdl.handle.net/20.500.12831/13135; 65; 157; 174; 2-s2.0-85159102632

الاتاحة: https://hdl.handle.net/20.500.12831/13135

المؤلفون: Zech M., Jech R., Boesch S., ¿korvánek M., Weber S., Wagner M., Zhao C., Jochim A., Necpál J., Dincer Y., Vill K., Distelmaier F., Stoklosa M., Krenn M., Grunwald S., Bock-Bierbaum T., Fecíková A., Havránková P., Roth J., Príhodová I., Adamovicová M., Ulmanová O., Bechyne K., Danhofer P., Veselý B., Han V., Pavelekova P., Gdovinová Z., Mantel T., Meindl T., Sitzberger A., Schröder S., Blaschek A., Roser T., Bonfert M.V., Haberlandt E., Plecko B., Leineweber B., Berweck S., Herberhold T., Langguth B., ¿vantnerová J., Minár M., Ramos-Rivera G.A., Wojcik M.H., Pajusalu S., Õunap K., Schatz U.A., Pölsler L., Milenkovic I., Laccone F., Pilshofer V., Colombo R., Patzer S., Iuso A., Vera J., Troncoso M., Fang F., Prokisch H., Wilbert F., Eckenweiler M., Graf E., Westphal D.S., Riedhammer K.M., Brunet T., Alhaddad B., Berutti R., Strom T.M., Hecht M., Baumann M., Wolf M., Telegrafi A., Person R.E., Zamora F.M., Henderson L.B., Weise D., Musacchio T., Volkmann J., Szuto A., Becker J., Cremer K., Sycha T., Zimprich F., Kraus V., Makowski C., Gonzalez-Alegre P., Bardakjian T.M., Ozelius L.J., Vetro A., Guerrini R., Maier E., Borggraefe I., Kuster A., Wortmann S.B., Hackenberg A., Steinfeld R., Assmann B., Staufner C., Opladen T., Ru¿icka E., Cohn R.D., Dyment D., Chung W.K., Engels H., Ceballos-Baumann A., Ploski R., Daumke O., Haslinger B., Mall V., Oexle K., Winkelmann J.

المصدر: The Lancet Neurology

وصف الملف: application/pdf

Relation: https://repositorio.uchile.cl/handle/2250/190324

الاتاحة: https://doi.org/10.1016/S1474-4422(20)30312-4
https://repositorio.uchile.cl/handle/2250/190324

المؤلفون: Singh, S., Gupta, A., Zech, M., Sigafoos, A.N., Clark, K.J., Dincer, Y., Wagner, M., Humberson, J.B., Green, S., van Gassen, K., Brandt, T., Schnur, R.E., Millan, F., Si, Y., Mall, V., Winkelmann, J., Gavrilova, R.H., Klee, E.W., Engleman, K., Safina, N.P., Slaugh, R., Bryant, E.M., Tan, W.H., Granadillo, J., Misra, S.N., Schaefer, G.B., Towner, S., Brilstra, E.H., Koeleman, B.P.C.

المصدر: Genet. Med. 22, 1413–1417 (2020)

مصطلحات موضوعية: Developmental Disorder, Epilepsy, Neurodevelopmental Disorder, Nr4a2, Seizures

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32366965; info:eu-repo/semantics/altIdentifier/wos/WOS:000530217700003; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59025; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59025
https://doi.org/10.1038/s41436-020-0815-4

المؤلفون: Harrer, P., Schalk, A., Shimura, M., Baer, S., Calmels, N., Spitz, M.A., Abi Warde, M.T., Schaefer, E., Kittke, V., Dincer, Y., Wagner, M., Dzinovic, I., Berutti, R., Sato, T., Shirakawa, T., Okazaki, Y., Murayama, K., Oexle, K., Prokisch, H., Mall, V., Melčák, I., Winkelmann, J., Zech, M.

المصدر: Ann. Neurol. 93, 330-335 (2023)

Relation: info:eu-repo/semantics/altIdentifier/pmid/36333996; info:eu-repo/semantics/altIdentifier/wos/000888885100001; info:eu-repo/semantics/altIdentifier/isbn/0364-5134; info:eu-repo/semantics/altIdentifie

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66606
https://doi.org/10.1002/ana.26544

المؤلفون: Caliskan, Z., Mutlu, T., Guven, M., Tuncdemir, M., Niyazioglu, M., Hacioglu, Y., Dincer, Y.

المصدر: GENE 642 542-548

Relation: https://aperta.ulakbim.gov.tr/record/35833; oai:zenodo.org:35833

الاتاحة: https://aperta.ulakbim.gov.tr/record/35833

المؤلفون: Akcay T, Himmetoglu S, Yasar O, Erdem T, Gundogdu S, Dincer Y

مصطلحات موضوعية: Hyperthyroidism, Graves' Disease, Oxidative Stress, DNA Damage, Comet Assay

Relation: oai:zenodo.org:1033462

الاتاحة: https://doi.org/10.19070/2167-910X-1700046

المؤلفون: Dincer, Y.

Relation: Coronavirus Disease: From Molecular to Clinical Perspectives; Kitap Bölümü - Uluslararası; 9.78154E+12; https://hdl.handle.net/20.500.12831/7031; 312; 2-s2.0-85108934424

الاتاحة: https://hdl.handle.net/20.500.12831/7031

المؤلفون: Dincer, Y., Yuksel, S.

مصطلحات موضوعية: COVID-19, Cytokine storm, Oxidative stress, Reactive oxygen species

Relation: Coronavirus Disease: From Molecular to Clinical Perspectives; Kitap Bölümü - Uluslararası; 9.78154E+12; https://hdl.handle.net/20.500.12831/7049; 247; 258; 2-s2.0-85108926993

الاتاحة: https://hdl.handle.net/20.500.12831/7049

المؤلفون: Neuser, S., Brechmann, B., Heimer, G., Brösse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D.A., Dincer, Y., Mall, V., Winkelmann, J., Behrends, C., Darras, B.T., Graham, R.J., Jayakar, P., Byrne, B., El Bar-Aluma, B., Haberman, Y., Szeinberg, A., Aldhalaan, H.M., Hashem, M., Tenaiji, A.A., Ismayl, O., Al Nuaimi, A.E., Maher, K., Ibrahim, S., Khan, F., Houlden, H., Ramakumaran, V.S., Pagnamenta, A.T., Posey, J.E., Lupski, J.R., Tan, W.H., ElGhazali, G., Herman, I., Muñoz, T., Repetto, G.M., Seitz, A., Krumbiegel, M., Cecilia Poli, M., Kini, U., Efthymiou, S., Meiler, J., Maroofian, R., Alkuraya, F.S., Jamra, R.A., Popp, B., Ben-Zeev, B., Ebrahimi-Fakhari, D.

المصدر: Hum. Mutat. 42, 762-776 (2021)

مصطلحات موضوعية: Tecpr2, Human Phenotype Ontology, Neurodevelopmental Disorder, Sensory Autonomic Neuropathy, Spastic Paraplegia

Relation: info:eu-repo/semantics/altIdentifier/pmid/33847017; info:eu-repo/semantics/altIdentifier/wos/WOS:000648919800001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61776
https://doi.org/10.1002/humu.24206

المؤلفون: Zech, M., Boesch, S., Škorvánek, M., Necpál, J., Švantnerová, J., Wagner, M., Dincer, Y., Sadr-Nabavi, A., Serranová, T., Rektorová, I., Havránková, P., Ganai, S., Mosejová, A., Příhodová, I., Šarláková, J., Kulcsarová, K., Ulmanová, O., Bechyně, K., Ostrozovičová, M., Haň, V., Ventosa, J.R., Shariati, M., Shoeibi, A., Weber, S., Mollenhauer, B., Trenkwalder, C., Berutti, R., Strom, T.M., Ceballos-Baumann, A., Mall, V., Haslinger, B., Jech, R., Winkelmann, J.

المصدر: Parkinsonism Relat. Disord. 84, 129-134 (2021)

مصطلحات موضوعية: Copy-number Variant, Diagnostic Yield, Dystonia, Read-depth Analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/33611074; info:eu-repo/semantics/altIdentifier/wos/WOS:000628766400001; info:eu-repo/semantics/altIdentifier/isbn/1353-8020; info:eu-repo/sem

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61391
https://doi.org/10.1016/j.parkreldis.2021.02.013

المؤلفون: Akcay, T, Onen, S, Alademir, Z, Tortum, OB, Dincer, Y

المساهمون: 163990

مصطلحات موضوعية: Dahili Tıp Bilimleri, İç Hastalıkları, Onkoloji, Tıp, Sağlık Bilimleri, Klinik Tıp (MED), Klinik Tıp, ONKOLOJİ

Relation: INTERNATIONAL JOURNAL OF CANCER; Dincer Y., Akcay T., Alademir Z., Tortum O., Onen S., "Glutathione-S transferase and O6-methylguanine DNA methyltransferase activites in patients with gastric carcinoma", INTERNATIONAL JOURNAL OF CANCER, ss.429, 2002; vv_1032021; av_164a7dc5-9105-493f-9651-410d56b4d166; http://hdl.handle.net/20.500.12627/20334; 429

الاتاحة: https://hdl.handle.net/20.500.12627/20334

المؤلفون: Akcay, T, Ozbay, G, Ilkova, H, Alademir, Z, Dincer, Y

المساهمون: 168698

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Eczacılık, Meslek Bilimleri, Farmasötik Toksikoloji, Yaşam Bilimleri, Biyoteknoloji, Moleküler Biyoloji ve Genetik, Temel Bilimler, TOKSİKOLOJİ, Farmakoloji ve Toksikoloji, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Mikrobiyoloji, BİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ

Relation: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS; Dincer Y., Akcay T., Ilkova H., Alademir Z., Ozbay G., "DNA damage and antioxidant defense in peripheral leukocytes of patients with type I diabetes mellitus", MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, cilt.527, ss.49-55, 2003; vv_1032021; av_9861b829-6c52-470d-a7c5-a7268504893e; http://hdl.handle.net/20.500.12627/102551; https://doi.org/10.1016/s0027-5107(03)00073-3; 527; 49; 55

الاتاحة: https://hdl.handle.net/20.500.12627/102551
https://doi.org/10.1016/s0027-5107(03)00073-3

المؤلفون: Alademir, Z, Ilkova, H, Dincer, Y, Akcay, A

المساهمون: 45209

مصطلحات موضوعية: BİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ, Tıp, Meslek Bilimleri, Yaşam Bilimleri (LIFE), GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, TOKSİKOLOJİ, Farmakoloji ve Toksikoloji, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Eczacılık, Mikrobiyoloji, Farmasötik Toksikoloji, Yaşam Bilimleri, Biyoteknoloji, Temel Bilimler

Relation: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS; Dincer Y., Akcay A., Alademir Z., Ilkova H., "Assessment of DNA base oxidation and glutathione level in patients with type 2 diabetes", MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, cilt.505, ss.75-81, 2002; vv_1032021; av_d5338661-550c-48d8-a8b8-f1a5cb01aa4d; http://hdl.handle.net/20.500.12627/140687; https://doi.org/10.1016/s0027-5107(02)00143-4; 505; 75; 81

الاتاحة: https://hdl.handle.net/20.500.12627/140687
https://doi.org/10.1016/s0027-5107(02)00143-4

المؤلفون: Karatas, A., Koc, E. E., Himmetoglu, S., Tuna, M. B., Celik, V., Ersoy, Y. E., Bayraktar, B., Dincer, Y., Ataus, S.

المساهمون: İstanbul Üniversitesi ,, 200338

مصطلحات موضوعية: Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, TIBBİ LABORATUVAR TEKNOLOJİSİ

Relation: CLINICAL CHEMISTRY AND LABORATORY MEDICINE; Dincer Y., Himmetoglu S., Ersoy Y. E. , Karatas A., Bayraktar B., Tuna M. B. , Koc E. E. , Celik V., Ataus S., "CIRCULATING C-ERBB2, INSULIN LIKE GROWTH FACTOR 1 AND EPIDERMAL GROWTH FACTOR IN CANCER PATIENTS", CLINICAL CHEMISTRY AND LABORATORY MEDICINE, cilt.49, 2011; vv_1032021; av_de1c642b-1bbe-46b7-9bcd-6a363ec3e952; http://hdl.handle.net/20.500.12627/146336; 49

الاتاحة: https://hdl.handle.net/20.500.12627/146336

المؤلفون: Hacioglu, Y., Mutlu, T., Niyazioglu, M., Tuncdemir, M., Guven, M., Dincer, Y., Caliskan, Z.

المساهمون: İstanbul Üniversitesi ,, 251313

مصطلحات موضوعية: Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, GENETİK VE HAYAT

Relation: GENE; Caliskan Z., Mutlu T., Guven M., Tuncdemir M., Niyazioglu M., Hacioglu Y., Dincer Y., "SIRT6 expression and oxidative DNA damage in individuals with prediabetes and type 2 diabetes mellitus", GENE, cilt.642, ss.542-548, 2018; vv_1032021; av_f71b419b-ec68-4620-b7f9-10bbd24a9415; http://hdl.handle.net/20.500.12627/161898; https://doi.org/10.1016/j.gene.2017.11.071; 642; 542; 548

الاتاحة: https://hdl.handle.net/20.500.12627/161898
https://doi.org/10.1016/j.gene.2017.11.071

المؤلفون: Celebi, N, Hatemi, S, Akcay, T, Uslu, I, Ozmen, O, Dincer, Y

المساهمون: 164211

مصطلحات موضوعية: Onkoloji, Sağlık Bilimleri, İç Hastalıkları, Dahili Tıp Bilimleri, Tıp, Klinik Tıp (MED), Klinik Tıp, ONKOLOJİ

Relation: CANCER INVESTIGATION; Dincer Y., Akcay T., Celebi N., Uslu I., Ozmen O., Hatemi S., "Glutathione S-transferase and O-6-methylguanine DNA methyl transferase activities in patients with thyroid papillary carcinoma", CANCER INVESTIGATION, cilt.20, ss.965-971, 2002; vv_1032021; av_17a76ec5-d74c-4168-8c94-9cb87ea0a2a2; http://hdl.handle.net/20.500.12627/21250; https://doi.org/10.1081/cnv-120005912; 20; 965; 971

الاتاحة: https://hdl.handle.net/20.500.12627/21250
https://doi.org/10.1081/cnv-120005912