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

العلاقة: https://idus.us.es/handle//11441/129439Test

الإتاحة: https://idus.us.es/handle//11441/129439Test

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

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

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

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

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

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

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

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

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