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1دورية أكاديمية
المؤلفون: Mondéjar, Rufino, Solano Manchego, Francisca, Rubio, Rocío, Delgado, Mercedes, Pérez Sempere, Ángel, González Meneses, Antonio, Vendrell, Teresa, Izquierdo Ayuso, Guillermo, Martínez Mir, Amalia, Lucas Lucas, Miguel
المساهمون: Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. CTS399: Neuromedicina Molecular
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Apoptosis Regulatory Proteins / genetics, Base Sequence, Carrier Proteins / genetics, Child, Codon, Nonsense, DNA Mutational Analysis, Gene Frequency, Hemangioma, Cavernous, Central Nervous System, KRIT1 Protein, Membrane Proteins / genetics, Microtubule-Associated Proteins / genetics, Polymorphism, Single Nucleotide, Prevalence, Proto-Oncogene Proteins / genetics, Sequence Deletion, Young Adult
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2دورية أكاديمية
المساهمون: Jiyon Yu, Yoon Jeong Choi, Sung-Hwan Choi, Han-Sung Jung, Ji Hyun Lee, Jung-Yul Cha
مصطلحات موضوعية: Adolescent, Adult, Bicuspid / surgery, Case-Control Studies, Duration of Therapy, Female, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Membrane Proteins / genetics, Middle Aged, Orthodontics / methods, Osteopontin / genetics, Polymorphism, Single Nucleotide, RANK Ligand / genetics, Receptors, Purinergic P2X7 / genetics, Retrospective Studies, Transcriptome, Treatment Outcome, Wnt3A Protein / genetics
وصف الملف: application/pdf
العلاقة: SCIENTIFIC REPORTS; J02646; OAK-2021-07493; https://ir.ymlib.yonsei.ac.kr/handle/22282913/186828Test; T202104708; SCIENTIFIC REPORTS, Vol.11(1) : 15942, 2021-08
الإتاحة: https://doi.org/10.1038/s41598-021-94979-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/186828Test -
3دورية أكاديمية
المساهمون: Sang-Eun Jung, Seung Min Lim, Sae Rom Hong, Eun Hee Lee, Kyoung-Jin Shin, Hwan Young Lee, Shin, Kyoung Jin
مصطلحات موضوعية: Acetyltransferases/genetics, Adolescent, Adult, Aged, Aging/genetics, Blood Chemical Analysis, CpG Islands/genetics, DNA Methylation, Forensic Genetics, Genetic Markers, Genotyping Techniques/instrumentation, Humans, LIM-Homeodomain Proteins/genetics, Membrane Proteins/genetics, Metalloproteins/genetics, Middle Aged, Mouth Mucosa/chemistry, Muscle Proteins/genetics, Saliva/chemistry, Sequence Analysis, DNA, Sp Transcription Factors/genetics, Transcription Factors/genetics, Young Adult, Age, Blood, Buccal swab, DNA methylation, Methylation SNaPshot, Saliva
العلاقة: FORENSIC SCIENCE INTERNATIONAL-GENETICS; J00905; OAK-2019-01266; https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test; https://www.sciencedirect.com/science/article/pii/S1872497318302382Test; T201901477; FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.38 : 1-8, 2019; 62882
الإتاحة: https://doi.org/10.1016/j.fsigen.2018.09.010Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test
https://www.sciencedirect.com/science/article/pii/S1872497318302382Test -
4دورية أكاديمية
المؤلفون: Kilpeläinen, T.O., Bentley, A.R., Noordam, R., Sung, Y.J., Schwander, K., Winkler, T.W., Jakupović, H., Chasman, D.I., Manning, A., Ntalla, I., Aschard, H., Brown, M.R., de Las Fuentes, L., Franceschini, N., Guo, X., Vojinovic, D., Aslibekyan, S., Feitosa, M.F., Kho, M., Musani, S.K., Richard, M., Wang, H., Wang, Z., Bartz, T.M., Bielak, L.F., Campbell, A., Dorajoo, R., Fisher, V., Hartwig, F.P., Horimoto, ARVR, Li, C., Lohman, K.K., Marten, J., Sim, X., Smith, A.V., Tajuddin, S.M., Alver, M., Amini, M., Boissel, M., Chai, J.F., Chen, X., Divers, J., Evangelou, E., Gao, C., Graff, M., Harris, S.E., He, M., Hsu, F.C., Jackson, A.U., Zhao, J.H., Kraja, A.T., Kühnel, B., Laguzzi, F., Lyytikäinen, L.P., Nolte, I.M., Rauramaa, R., Riaz, M., Robino, A., Rueedi, R., Stringham, H.M., Takeuchi, F., van der Most, P.J., Varga, T.V., Verweij, N., Ware, E.B., Wen, W., Li, X., Yanek, L.R., Amin, N., Arnett, D.K., Boerwinkle, E., Brumat, M., Cade, B., Canouil, M., Chen, Y.I., Concas, M.P., Connell, J., de Mutsert, R., de Silva, H.J., de Vries, P.S., Demirkan, A., Ding, J., Eaton, C.B., Faul, J.D., Friedlander, Y., Gabriel, K.P., Ghanbari, M., Giulianini, F., Gu, C.C., Gu, D., Harris, T.B., He, J., Heikkinen, S., Heng, C.K., Hunt, S.C., Ikram, M.A., Jonas, J.B., Koh, W.P., Komulainen, P., Krieger, J.E., Kritchevsky, S.B., Kutalik, Z., Kuusisto, J., Langefeld, C.D., Langenberg, C., Launer, L.J., Leander, K., Lemaitre, R.N., Lewis, C.E., Liang, J., Liu, J., Mägi, R., Manichaikul, A., Meitinger, T., Metspalu, A., Milaneschi, Y., Mohlke, K.L., Mosley, T.H., Murray, A.D., Nalls, M.A., Nang, E.K., Nelson, C.P., Nona, S., Norris, J.M., Nwuba, C.V., O'Connell, J., Palmer, N.D., Papanicolau, G.J., Pazoki, R., Pedersen, N.L., Peters, A., Peyser, P.A., Polasek, O., Porteous, D.J., Poveda, A., Raitakari, O.T., Rich, S.S., Risch, N., Robinson, J.G., Rose, L.M., Rudan, I., Schreiner, P.J., Scott, R.A., Sidney, S.S., Sims, M., Smith, J.A., Snieder, H., Sofer, T., Starr, J.M., Sternfeld, B., Strauch, K., Tang, H., Taylor, K.D., Tsai, M.Y., Tuomilehto, J., Uitterlinden, A.G., van der Ende, M.Y., van Heemst, D., Voortman, T., Waldenberger, M., Wennberg, P., Wilson, G., Xiang, Y.B., Yao, J., Yu, C., Yuan, J.M., Zhao, W., Zonderman, A.B., Becker, D.M., Boehnke, M., Bowden, D.W., de Faire, U., Deary, I.J., Elliott, P., Esko, T., Freedman, B.I., Froguel, P., Gasparini, P., Gieger, C., Kato, N., Laakso, M., Lakka, T.A., Lehtimäki, T., Magnusson, PKE, Oldehinkel, A.J., Penninx, BWJH, Samani, N.J., Shu, X.O., van der Harst, P., Van Vliet-Ostaptchouk, J.V., Vollenweider, P., Wagenknecht, L.E., Wang, Y.X., Wareham, N.J., Weir, D.R., Wu, T., Zheng, W., Zhu, X., Evans, M.K., Franks, P.W., Gudnason, V., Hayward, C., Horta, B.L., Kelly, T.N., Liu, Y., North, K.E., Pereira, A.C., Ridker, P.M., Tai, E.S., van Dam, R.M., Fox, E.R., Kardia, SLR, Liu, C.T., Mook-Kanamori, D.O., Province, M.A., Redline, S., van Duijn, C.M., Rotter, J.I., Kooperberg, C.B., Gauderman, W.J., Psaty, B.M., Rice, K., Munroe, P.B., Fornage, M., Cupples, L.A., Rotimi, C.N., Morrison, A.C., Rao, D.C., Loos, RJF
المساهمون: Lifelines Cohort Study, Alizadeh, B.Z., Boezen, H.M., Franke, L., Navis, G., Rots, M., Swertz, M., Wolffenbuttel, BHR, Wijmenga, C.
المصدر: Nature communications, vol. 10, no. 1, pp. 376
مصطلحات موضوعية: Adolescent, Adult, African Continental Ancestry Group/genetics, Aged, 80 and over, Asian Continental Ancestry Group/genetics, Brazil, Calcium-Binding Proteins/genetics, Cholesterol/blood, Cholesterol, HDL/blood, HDL/genetics, LDL/blood, LDL/genetics, European Continental Ancestry Group/genetics, Exercise, Female, Genetic Loci/genetics, Genome-Wide Association Study, Genotype, Hispanic Americans/genetics, Humans, LIM-Homeodomain Proteins/genetics, Lipid Metabolism/genetics, Lipids/blood, Lipids/genetics, Male, Membrane Proteins/genetics, Microtubule-Associated Proteins/genetics, Middle Aged
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30670697; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1B8EF42248BA4; https://serval.unil.ch/notice/serval:BIB_1B8EF42248BATest; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_1B8EF42248BA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1B8EF42248BA4Test
الإتاحة: https://doi.org/10.1038/s41467-018-08008-wTest
https://serval.unil.ch/notice/serval:BIB_1B8EF42248BATest
https://serval.unil.ch/resource/serval:BIB_1B8EF42248BA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1B8EF42248BA4Test -
5دورية أكاديمية
المساهمون: College of Medicine, Dept. of Otorhinolaryngology, Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung, Jung, Jinsei, Gee, Heon Yung, Choi, Jae Young
مصطلحات موضوعية: Adolescent, Asian Continental Ancestry Group/genetics, Audiometry, Deafness/genetics, Female, Hearing Loss, Bilateral/genetics, Humans, Male, Membrane Proteins/genetics, Middle Aged, Mutation, Missense/genetics, Republic of Korea, Temporal Bone/diagnostic imaging, Tomography, X-Ray Computed, Whole Exome Sequencing, Autosomal dominant, Low-frequency hearing loss, Nonsyndromic hearing loss, WFS1
العلاقة: BMC MEDICAL GENETICS; J00361; OAK-2017-07528; https://ir.ymlib.yonsei.ac.kr/handle/22282913/161633Test; T201705347; BMC MEDICAL GENETICS, Vol.18(1) : 151, 2017
الإتاحة: https://doi.org/10.1186/s12881-017-0511-7Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161633Test -
6دورية أكاديميةGenetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics
المساهمون: College of Dentistry, Dept. of Prosthodontics, J Hwang, Y-L Kim, S Kang, S Kim, S-O Kim, JH Lee, D-H Han, Lee, Jae Hoon, Han, Dong Hoo
مصطلحات موضوعية: Adolescent, Antigens, CD/genetics, Carrier Proteins/genetics, Child, Exome/genetics, Female, Fibromatosis, Gingival/genetics, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome/genetics, Guanine Nucleotide Exchange Factors/genetics, Humans, Male, Membrane Proteins/genetics, Pedigree, Receptor, Insulin/genetics, Sequence Alignment, Sequence Analysis, DNA, bioinformatics, fibronectin, gingival hyperplasia, hereditary gingival fibromatosis, whole-exome sequencing
العلاقة: ORAL DISEASES; J02438; OAK-2017-00003; https://ir.ymlib.yonsei.ac.kr/handle/22282913/154160Test; T201604572; ORAL DISEASES, Vol.23(1) : 102-109, 2017
الإتاحة: https://doi.org/10.1111/odi.12583Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154160Test -
7دورية أكاديمية
المساهمون: College of Medicine, Dept. of Anatomy, Borum Sagong, Jeong-In Baek, Jinwoong Bok, Kyu-Yup Lee, Un-Kyung Kim, Bok, Jin Woong
مصطلحات موضوعية: Adolescent, Asian Continental Ancestry Group/genetics, Codon, Nonsense, Computational Biology, DNA Mutational Analysis, Female, Hearing Loss, Sensorineural/genetics, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Male, Membrane Proteins/genetics, Pedigree, Pseudogenes/genetics, Republic of Korea, DFNB16, STRC, Stereocilin, Targeted sequencing
وصف الملف: 78~81
العلاقة: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY; J01148; OAK-2016-03137; https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test; http://www.sciencedirect.com/science/article/pii/S0165587615005984Test; T201602071; INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, Vol.80 : 78-81, 2016
الإتاحة: https://doi.org/10.1016/j.ijporl.2015.11.018Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147089Test
http://www.sciencedirect.com/science/article/pii/S0165587615005984Test -
8دورية أكاديمية
المساهمون: College of Medicine, Dept. of Pharmacology, Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, In챔s Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, Friedhelm Hildebrandt, Gee, Heon Yung
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Child, Preschool, Cohort Studies, Female, Genes, Wilms Tumor, Genetic Association Studies, Genetic Predisposition to Disease/epidemiology, Genotype, Heterozygote, Humans, Incidence, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Middle Aged, Mutation, Nephrotic Syndrome/congenital, Nephrotic Syndrome/epidemiology, Nephrotic Syndrome/genetics, Nephrotic Syndrome/physiopathology, Pedigree, Phenotype, Real-Time Polymerase Chain Reaction, Retrospective Studies, Risk Assessment
العلاقة: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; J01779; OAK-2015-05412; https://ir.ymlib.yonsei.ac.kr/handle/22282913/156712Test; http://jasn.asnjournals.org/content/26/6/1279.abstractTest; T201504426; JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol.26(6) : 1279-1289, 2015
الإتاحة: https://doi.org/10.1681/ASN.2014050489Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/156712Test
http://jasn.asnjournals.org/content/26/6/1279.abstractTest -
9دورية أكاديمية
المساهمون: Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young-Eun Park, Dae-Seong Kim, Duhee Bang, Min Goo Lee, Ji Hyun Lee, Young-Chul Choi, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Lee, Jung Hwan, Lee, Ji Hyun, Choi, Young Chul
مصطلحات موضوعية: Adolescent, Adult, Child, DNA Mutational Analysis, Dysferlin, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Young Adult, DYSF, Dysferlinopathy, Hybridization capture, Mutation, Next-generation sequencing
وصف الملف: 502~510
العلاقة: NEUROMUSCULAR DISORDERS; J02344; OAK-2015-00991; https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test; http://www.sciencedirect.com/science/article/pii/S0960896615001005Test; T201501491; NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015
الإتاحة: https://doi.org/10.1016/j.nmd.2015.03.006Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test
http://www.sciencedirect.com/science/article/pii/S0960896615001005Test -
10دورية أكاديمية
المؤلفون: Petersen, J.A., Kuntzer, T., Fischer, D., von der Hagen, M., Huebner, A., Kana, V., Lobrinus, J.A., Kress, W., Rushing, E.J., Sinnreich, M., Jung, H.H.
المصدر: Bmc Neurology, vol. 15, no. 1, pp. 182
مصطلحات موضوعية: Adolescent, Adult, Female, Founder Effect, Heterozygote, Homozygote, Humans, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Switzerland, Young Adult
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26444858; info:eu-repo/semantics/altIdentifier/eissn/1471-2377; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DFF23E46ADD9; https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest; urn:issn:1471-2377; https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test
الإتاحة: https://doi.org/10.1186/s12883-015-0449-3Test
https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest
https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test