المؤلفون: Langdahl, Jakob Høgild, Frederiksen, Anja Lisbeth, Hansen, Stinus Jørn, Andersen, Per Heden, Yderstraede, Knud Bonnet, Dunø, Morten, Vissing, John, Frost, Morten

المصدر: Langdahl , J H , Frederiksen , A L , Hansen , S J , Andersen , P H , Yderstraede , K B , Dunø , M , Vissing , J & Frost , M 2017 , ' Mitochondrial point mutation m.3243A > G associates with lower bone mineral density, thinner cortices and reduced bone strength : A case-control study ' , Journal of Bone and Mineral Research , vol. 32 , no. 10 , pp. 2041–2048 . https://doi.org/10.1002/jbmr.3193

مصطلحات موضوعية: Journal Article, MITOCHONDRIAL, DIABETES, HRPQCT, M.3243A>G, BONE TURNOVER MARKERS, Bone Density, Diabetes Mellitus/genetics, Humans, Middle Aged, Cortical Bone/diagnostic imaging, Point Mutation/genetics, Male, Tomography, X-Ray Computed, Biomarkers/metabolism, Absorptiometry, Photon, Case-Control Studies, Biomechanical Phenomena, Mitochondria/genetics, Female, Bone Remodeling

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/1856c039-8a50-4b02-b193-4c2824ddc063

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/1856c039-8a50-4b02-b193-4c2824ddc063
https://doi.org/10.1002/jbmr.3193
https://findresearcher.sdu.dk/ws/files/128909910/Mitochondrial_point_mutation_m.3243A_.pdf

المؤلفون: Bordelet, H., Costa, R., Brocas, C., Dépagne, J., Veaute, X., Busso, D., Batté, A., Guérois, R., Marcand, S., Dubrana, K.

المصدر: The EMBO journal, vol. 41, no. 1, pp. e108813

مصطلحات موضوعية: Amino Acid Sequence, DNA End-Joining Repair, Endonucleases/chemistry, Endonucleases/metabolism, Heterochromatin/metabolism, Point Mutation/genetics, Protein Binding, Protein Domains, Saccharomyces cerevisiae Proteins/chemistry, Saccharomyces cerevisiae Proteins/metabolism, Silent Information Regulator Proteins, Saccharomyces cerevisiae/chemistry, Saccharomyces cerevisiae/genetics, Saccharomyces cerevisiae/metabolism, Telomere/metabolism, DSB repair, NHEJ, Sae2, Sir3, heterochromatin

Relation: info:eu-repo/semantics/altIdentifier/pmid/34817085; info:eu-repo/semantics/altIdentifier/eissn/1460-2075; https://serval.unil.ch/notice/serval:BIB_B324B956EAC2

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B324B956EAC2
https://doi.org/10.15252/embj.2021108813

المؤلفون: Waddell, Nicola, Pajic, Marina, Patch, Ann-Marie, Chang, David K, Kassahn, Karin S, Bailey, Peter, Johns, Amber L, Miller, David, Nones, Katia, Quek, Kelly, Quinn, Michael C J, Robertson, Alan J, Fadlullah, Muhammad Z H, Bruxner, Tim J C, Christ, Angelika N, Harliwong, Ivon, Idrisoglu, Senel, Manning, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Wani, Shivangi, Wilson, Peter J, Markham, Emma, Cloonan, Nicole, Anderson, Matthew J, Fink, J Lynn, Holmes, Oliver, Kazakoff, Stephen H, Leonard, Conrad, Newell, Felicity, Poudel, Barsha, Song, Sarah, Taylor, Darrin, Waddell, Nick, Wood, Scott, Xu, Qinying, Wu, Jianmin, Pinese, Mark, Cowley, Mark J, Lee, Hong C, Jones, Marc D, Nagrial, Adnan M, Humphris, Jeremy, Chantrill, Lorraine A, Chin, Venessa, Steinmann, Angela M, Mawson, Amanda, Humphrey, Emily S, Colvin, Emily K, Chou, Angela, Scarlett, Christopher J, Pinho, Andreia V, Giry-Laterriere, Marc, Rooman, Ilse, Samra, Jaswinder S, Kench, James G, Pettitt, Jessica A, Merrett, Neil D, Toon, Christopher, Epari, Krishna, Nguyen, Nam Q, Barbour, Andrew, Zeps, Nikolajs, Jamieson, Nigel B, Graham, Janet S, NICLOU, Simone P., Bjerkvig, Rolf, Grützmann, Robert, Aust, Daniela, Hruban, Ralph H, Maitra, Anirban, Iacobuzio-Donahue, Christine A, Wolfgang, Christopher L, Morgan, Richard A, Lawlor, Rita T, Corbo, Vincenzo, Bassi, Claudio, Falconi, Massimo, Zamboni, Giuseppe, Tortora, Giampaolo, Tempero, Margaret A, Australian Pancreatic Cancer Genome, Gill, Anthony J, Eshleman, James R, Pilarsky, Christian, Scarpa, Aldo, Musgrove, Elizabeth A, Pearson, John V, Biankin, Andrew V, Grimmond, Sean M

المساهمون: Biankin, Andrew V, Johns, Amber L, Mawson, Amanda, Chang, David K, Scarlett, Christopher J, Brancato, Mary-Anne L, Rowe, Sarah J, Simpson, Skye H, Martyn-Smith, Mona, Thomas, Michelle T, Chantrill, Lorraine A, Chin, Venessa T, Chou, Angela, Cowley, Mark J, Humphris, Jeremy L, Jones, Marc D, Mead, R Scott, Nagrial, Adnan M, Pajic, Marina, Pettit, Jessica, Pinese, Mark, Rooman, Ilse, Wu, Jianmin, Tao, Jiang, DiPietro, Renee, Watson, Clare, Steinmann, Angela, Ching Lee, Hong, Wong, Rachel, Pinho, Andreia V, Giry-Laterriere, Marc, Daly, Roger J, Musgrove, Elizabeth A, Sutherland, Robert L, Grimmond, Sean M, Waddell, Nicola, Kassahn, Karin S, Miller, David K, Wilson, Peter J, Patch, Ann-Marie, Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Newell, Felicity, Pearson, John V, Bailey, Peter, Quinn, Michael, Nagaraj, Shivashankar, Kazakoff, Stephen, Waddell, Nick, Krisnan, Keerthana, Quek, Kelly, Wood, David, Fadlullah, Muhammad Z H, Samra, Jaswinder S, Gill, Anthony J, Pavlakis, Nick, Guminski, Alex, Toon, Christopher, Asghari, Ray, Merrett, Neil D, Pavey, Darren, Das, Amitabha, Cosman, Peter H, Ismail, Kasim, O'Connnor, Chelsie, Lam, Vincent W, McLeod, Duncan, Pleass, Henry C, Richardson, Arthur, James, Virginia, Kench, James G, Cooper, Caroline L, Joseph, David, Sandroussi, Charbel, Crawford, Michael, Gallagher, James, Texler, Michael, Forest, Cindy, Laycock, Andrew, Epari, Krishna P, Ballal, Mo, Fletcher, David R, Mukhedkar, Sanjay

المصدر: Nature, 518 (7540), 495-501 (2015-02-26)

مصطلحات موضوعية: Genetic Markers, Poly(ADP-ribose) Polymerase Inhibitors, 49DFR088MY (Platinum), Adenocarcinoma/drug therapy/genetics, Animals, Carcinoma, Pancreatic Ductal/drug therapy/genetics, DNA Mutational Analysis, DNA Repair/genetics, Female, Genes, BRCA1, BRCA2, Genetic Markers/genetics, Genome, Human/genetics, Genomic Instability/genetics, Genomics, Genotype, Humans, Mice, Mutation/genetics, Pancreatic Neoplasms/classification/drug therapy/genetics, Platinum/pharmacology, Point Mutation/genetics, Xenograft Model Antitumor Assays, Human health sciences, Oncology, Sciences de la santé humaine, Oncologie

Relation: urn:issn:0028-0836; urn:issn:1476-4687; https://orbilu.uni.lu/handle/10993/60218; info:hdl:10993/60218; https://orbilu.uni.lu/bitstream/10993/60218/1/nature14169.pdf; info:pmid:25719666

الاتاحة: https://orbilu.uni.lu/handle/10993/60218
https://orbilu.uni.lu/bitstream/10993/60218/1/nature14169.pdf
https://doi.org/10.1038/nature14169

المؤلفون: Tan, Xiaohui, Wang, Hongyi, Luo, Guangbin, Ren, Shuyang, Li, Wenmei, Cui, Jiantao, Gill, Harindarpal S., Fu, Sidney W., Lu, Youyong

المصدر: Medicine Faculty Publications

مصطلحات موضوعية: Biomarkers, Tumor--genetics, DNA Polymerase beta--genetics, Point Mutation--genetics, Stomach Neoplasms--genetics, Adult, Aged, 80 and over, Tumor, Blotting, Western, Cell Line, DNA Polymerase beta, Female, Humans, Male, Middle Aged, Point Mutation, Polymerase Chain Reaction, Stomach Neoplasms, Cancer Biology, Medicine and Health Sciences, Neoplasms, Oncology

وصف الملف: application/pdf

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_medicine_facpubs/834; https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1834&context=smhs_medicine_facpubs

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_medicine_facpubs/834
https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1834&context=smhs_medicine_facpubs

المؤلفون: Vyas, Yukti, Jung, Yewon, Lee, Kevin, Garner, Craig C, Montgomery, Johanna M

المصدر: Molecular brain 14(1), 95 (2021). doi:10.1186/s13041-021-00809-3

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Newborn, Autism Spectrum Disorder: genetics, Autism Spectrum Disorder: pathology, Dietary Supplements, Female, Glutamic Acid: metabolism, Hippocampus: pathology, Male, Nerve Tissue Proteins: genetics, Neurons: drug effects, Neurons: metabolism, Neurons: pathology, Point Mutation: genetics, Rats, Synapses: drug effects, Synapses: pathology, Zinc: pharmacology, Autism, Glutamatergic synapses, Shank2, Zinc supplementation

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1756-6606; info:eu-repo/semantics/altIdentifier/pmid/pmid:34167580; https://pub.dzne.de/record/155437; https://pub.dzne.de/search?p=id:%22DZNE-2021-00643%22

الاتاحة: https://pub.dzne.de/record/155437
https://pub.dzne.de/search?p=id:%22DZNE-2021-00643%22

المساهمون: Young Jun Rhie, Kee Hyoung Lee, Jung Min Ko, Woo Jung Lee, Jung Hyun Kim, Ho Seong Kim, Kim, Ho Seong

المصدر: T201404775.pdf

مصطلحات موضوعية: Base Sequence, Child, Female, Genetic Markers/genetics, Genetic Predisposition to Disease/epidemiology, Genetic Predisposition to Disease/genetics, Humans, Kisspeptins/genetics, Molecular Sequence Data, Point Mutation/genetics, Polymorphism, Single Nucleotide/genetics, Prevalence, Puberty, Precocious/epidemiology, Precocious/genetics, Reproducibility of Results, Republic of Korea/epidemiology, Risk Assessment, Sensitivity and Specificity, G-Protein Coupled Receptor-54, KISS1 Gene, Kisspeptins, Precocious Puberty, Central

وصف الملف: 1120~1125

Relation: JOURNAL OF KOREAN MEDICAL SCIENCE; J01517; OAK-2014-02788; https://ir.ymlib.yonsei.ac.kr/handle/22282913/138521; T201404775; JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.29(8) : 1120-1125, 2014

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/138521
https://doi.org/10.3346/jkms.2014.29.8.1120

المؤلفون: Colin, Laurence, Vandenhoudt, Nathalie, De Walque, Stéphane, Van Driessche, Benoît, Bergamaschi, Anna, Martinelli, Valérie, Cherrier, Thomas, Vanhulle, Caroline, Guiguen, Allan, David, Annie, Burny, Arsène, Herbein, Georges, Pancino, Gianfranco, Rohr, Olivier, Van Lint, Carine

المصدر: PloS one, 6 (4

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Base Sequence, Binding Sites, Enhancer Elements, Genetic -- genetics, Genes, Dominant -- genetics, pol -- genetics, HIV-1 -- genetics -- physiology, Humans, Jurkat Cells, Macrophages -- drug effects -- virology, Molecular Sequence Data, Monocytes -- drug effects -- virology, Point Mutation -- genetics, Protein Binding -- drug effects, Proto-Oncogene Proteins c-fos -- metabolism, Proto-Oncogene Proteins c-jun -- metabolism, RNA Polymerase II -- metabolism, Regulatory Sequences, Nucleic Acid -- genetics, T-Lymphocytes -- drug effects -- virology, Tetradecanoylphorbol Acetate -- pharmacology, Transcription Factor AP-1 -- metabolism, Virus Replication -- genetics, tat Gene Products, Human Immunodeficiency Virus

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

Relation: uri/info:doi/10.1371/journal.pone.0019084; uri/info:pmid/21526160; uri/info:scp/79955423373; uri/info:pmcid/PMC3079759; https://dipot.ulb.ac.be/dspace/bitstream/2013/97739/3/doi_76748.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/97739

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/97739
https://dipot.ulb.ac.be/dspace/bitstream/2013/97739/3/doi_76748.pdf

المساهمون: Eunjin Koh, Russell W Bandle, David D Roberts, Mary L Stracke, Timothy Clair, Koh, Eun Jin

المصدر: T200906171.pdf

مصطلحات موضوعية: Amino Acid Substitution/drug effects, Cell Movement/drug effects, Fatty Acids/metabolism, Humans, Hydrolysis/drug effects, Immunoblotting, Kinetics, Lysophospholipids/pharmacology, Multienzyme Complexes/genetics, Multienzyme Complexes/metabolism, Mutant Proteins/genetics, Mutant Proteins/metabolism, Phosphodiesterase I/genetics, Phosphodiesterase I/metabolism, Phosphoric Diester Hydrolases, Point Mutation/genetics, Pyrophosphatases/genetics, Pyrophosphatases/metabolism, Substrate Specificity/drug effects, Histidine Residue, Artificial Substrate, Migration Response, Choline Oxidase, A2058 Human Melanoma Cell

Relation: LIPIDS IN HEALTH AND DISEASE; J02169; OAK-2009-02720; https://ir.ymlib.yonsei.ac.kr/handle/22282913/106060; T200906171; LIPIDS IN HEALTH AND DISEASE, Vol.8 : 4, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/106060
https://doi.org/10.1186/1476-511X-8-4

المساهمون: Jong-Ha Yoo, Tae Sung Park, Ho-Young Maeng, Young-Kyu Sun, Young-Ah Kim, Jeong-Hae Kie, Eun Hae Cho, Jaewoo Song, Kyung-A Lee, Borum Suh, Jong Rak Choi, Maeng, Ho Young, Park, Tae Sung, Sun, Young Kyu, Song, Jae Woo, Lee, Kyung A, Choi, Jong Rak

مصطلحات موضوعية: Adult, Base Sequence, Humans, Janus Kinase 2/genetics, Male, Molecular Sequence Data, Point Mutation/genetics, Polycythemia Vera/genetics, Polycythemia Vera/pathology

Relation: CANCER GENETICS AND CYTOGENETICS; J00443; OAK-2009-00104; https://ir.ymlib.yonsei.ac.kr/handle/22282913/103444; http://www.sciencedirect.com/science/article/pii/S0165460808005426; T200900173; CANCER GENETICS AND CYTOGENETICS, Vol.189(1) : 43-47, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/103444
https://doi.org/10.1016/j.cancergencyto.2008.09.010
http://www.sciencedirect.com/science/article/pii/S0165460808005426

المؤلفون: Chae, Jong-Hee, Lee, Jin Sook, Kim, Ki Joong, Hwang, Yong Seung, Hirano, Michio

المساهمون: 채종희, 이진숙, 김기중, 황용승

مصطلحات موضوعية: Child, Preschool, DNA, Mitochondrial/*genetics, Female, Humans, Infant, Newborn, Korea, Leigh Disease/*genetics/*metabolism, Male, Multienzyme Complexes/classification/*deficiency, Point Mutation/*genetics, Retrospective Studies

Relation: Brain Dev. 2008;30(6):387-390; 0387-7604 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376; http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T50-4RDBYY8-1-1&_cdi=4988&_user=168665&_orig=search&_coverDate=06%2F30%2F2008&_sk=999699993&view=c&wchp=dGLbVzz-zSkzS&md5=dc8a7588c434ad1f9c44b75d1af9b7bf&ie=/sdarticle.pdf; http://hdl.handle.net/10371/68115

الاتاحة: http://hdl.handle.net/10371/68115
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376
http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T50-4RDBYY8-1-1&_cdi=4988&_user=168665&_orig=search&_coverDate=06%2F30%2F2008&_sk=999699993&view=c&wchp=dGLbVzz-zSkzS&md5=dc8a7588c434ad1f9c44b75d1af9b7bf&ie=/sdarticle.pdf
https://doi.org/10.1016/j.braindev.2007.11.001

المؤلفون: Carlsson, P I, Borg, E

المصدر: AudioNytt. 30(4):10

المساهمون: Jae J. Song, Yong J. Lee, Song, Jae Jin

المصدر: T200504611.pdf

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing/genetics, Signal Transducing/metabolism, Cell Line, Tumor, Down-Regulation, Enzyme Activation, Feedback, Physiological/physiology, Glucose/deficiency, Humans, MAP Kinase Kinase 1/metabolism, MAP Kinase Kinase 4/metabolism, MAP Kinase Kinase Kinase 5/metabolism, MAP Kinase Signaling System/physiology, Mitogen-Activated Protein Kinase 8/metabolism, Mitogen-Activated Protein Kinase 9/metabolism, Oxidative Stress/physiology, Phosphorylation, Point Mutation/genetics, Protein-Serine-Threonine Kinases/genetics, Protein-Serine-Threonine Kinases/metabolism, Proto-Oncogene Proteins/genetics, Proto-Oncogene Proteins/metabolism, Proto-Oncogene Proteins c-akt, RNA Interference/physiology, Signal Transduction/physiology

Time: 15998799

وصف الملف: 61~72

Relation: JOURNAL OF CELL BIOLOGY; J01300; OAK-2005-02220; https://ir.ymlib.yonsei.ac.kr/handle/22282913/114961; T200504611; JOURNAL OF CELL BIOLOGY, Vol.170(1) : 61-72, 2005

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/114961
https://doi.org/10.1083/jcb.200502070

المؤلفون: Karamohamed, Samer, Golbe, L I, Mark, M H, Lazzarini, A M, Suchowersky, O, Labelle, N, Guttman, Mark, Currie, L J, Wooten, G F, Stacy, M, Saint-Hilaire, M, Feldman, R G, Liu, J, Shoemaker, C M, Wilk, J B, DeStefano, A L, Latourelle, J C, Xu, G, Watts, R, Growdon, J, Lew, M, Waters, C, Vieregge, P, Pramstaller, P P, Klein, C, Racette, B A, Perlmutter, J S, Parsian, A, Singer, Carlos, Montgomery, E, Baker, K, Gusella, J F

المصدر: Neurology

مصطلحات موضوعية: Aged, DNA-Binding Proteins (genetics), Gene Deletion, Genetic Predisposition to Disease, Genetic Variation (genetics), Genotype, Humans, Intracellular Signaling Peptides and Proteins, Middle Aged, Nuclear Receptor Subfamily 4, Group A, Member 2, Oncogene Proteins (genetics), Parkinson Disease (genetics), Point Mutation (genetics), Polymerase Chain Reaction, Protein Deglycase DJ-1, Risk Factors, Transcription Factors (genetics), alpha-Synuclein (genetics)

Relation: https://scholar.barrowneuro.org/neurology/1102; https://doi.org/10.1002/mds.20515

الاتاحة: https://scholar.barrowneuro.org/neurology/1102
https://doi.org/10.1002/mds.20515

المساهمون: Jong In Yook, Seoung Ae Lee, Jin Kim, In Ho Cha, Jung Huh, Yong Chan Chun, Kim, Jin, Yook, Jong In, Cha, In Ho

مصطلحات موضوعية: 3T3 Cells, Actins/analysis, Adult, Animals, Carcinoma, Mucoepidermoid/pathology, Mucoepidermoid/secondary, Squamous Cell/pathology, Cell Differentiation, Cell Line, Tumor, Coculture Techniques, Codon/genetics, Collagen, Culture Media, Epithelial Cells/pathology, Genes, p53/genetics, Humans, Keratins/analysis, Lymphatic Metastasis/pathology, Male, Mice, Inbred BALB C, Nude, Muscle, Smooth/pathology, Neoplasm Transplantation, Point Mutation/genetics, Tongue Neoplasms/pathology

وصف الملف: 237~242

Relation: JOURNAL OF ORAL PATHOLOGY & MEDICINE; J01665; OAK-2004-01559; https://ir.ymlib.yonsei.ac.kr/handle/22282913/111344; T200402797; JOURNAL OF ORAL PATHOLOGY & MEDICINE, Vol.33(4) : 237-242, 2004

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/111344
https://doi.org/10.1111/j.0904-2512.2004.00056.x
http://onlinelibrary.wiley.com/doi/10.1111/j.0904-2512.2004.00056.x/abstract

المؤلفون: Song, Byung-Cheol, Kim, Hong, Kim, Sun-Hyun, Cha, Chang-Yong, Kook, Yoon-Hoh, Kim, Bum-Joon

المساهمون: 송병철, 김홍, 김선현, 차창용, 국윤호, 김범준

مصطلحات موضوعية: Adult, Aged, Amino Acid Sequence, Amino Acid Substitution/genetics, Carcinoma, Hepatocellular/*virology, Carrier State/*virology, Female, Genome, Viral, Genotype, Hepatitis B Surface Antigens/genetics, Hepatitis B virus/*genetics/isolation & purification, Hepatitis B, Chronic/*virology, Humans, Korea, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense/genetics, Phylogeny, Point Mutation/genetics, Promoter Regions, Genetic/genetics, Protein Precursors/genetics, Sequence Deletion/genetics, Trans-Activators/genetics, Base Sequence

Relation: J Med Virol. 2005 Jan;75(1):13-9.; 0146-6615 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15543574; https://hdl.handle.net/10371/29814

الاتاحة: https://hdl.handle.net/10371/29814
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15543574
https://doi.org/10.1002/jmv.20230

المؤلفون: Anthony A. Armstrong, Tom C. Nesspor, Joyce I. Meesters, Matthew Bunce, Isil Altintas, Sandra Verploegen, Janine Schuurman, Aran F. Labrijn, Sandeep Somani, Mark L. Chiu, Paul W. H. I. Parren

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Labrijn, A F, Meesters, J I, Bunce, M, Armstrong, A A, Somani, S, Nesspor, T C, Chiu, M L, Altintaş, I, Verploegen, S, Schuurman, J & Parren, P W H I 2017, ' Efficient Generation of Bispecific Murine Antibodies for Pre-Clinical Investigations in Syngeneic Rodent Models ', Scientific Reports, vol. 7, 2476 . https://doi.org/10.1038/s41598-017-02823-9
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Bispecific antibody, Rodent, Science, Computational biology, Article, 03 medical and health sciences, Mice, Immune system, Neoplasms, biology.animal, Antibodies, Bispecific, Point Mutation, Animals, Antibodies, Bispecific/biosynthesis, Humans, Point Mutation/genetics, Effector functions, Multidisciplinary, biology, Effector, Immunogenicity, Neoplasms therapy, Neoplasms/genetics, Xenograft Model Antitumor Assays, Rats, 030104 developmental biology, Immunoglobulin G, Immunology, Models, Animal, biology.protein, Medicine, Antibody, Immunoglobulin G/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e2908b4120d2d1ca58d5fc5b194d56
https://doaj.org/article/bbef8d706f08451bb51dc1be0939cbc2

المؤلفون: Dan, Bernard, Chéron, Guy

المصدر: Revue neurologique, 159 (5 Pt 1

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Angelman Syndrome -- diagnosis, Angelman Syndrome -- genetics, Cerebral Palsy -- complications, Chromosomes, Human, Pair 15 -- genetics, Diagnosis, Differential, Electroencephalography, Epilepsy -- complications, Epilepsy -- diagnosis, Humans, Ligases -- genetics, Mental Disorders -- complications, Mental Retardation -- complications, Phenotype, Point Mutation -- genetics, Psychomotor Disorders -- complications, Speech Disorders -- complications, Ubiquitin-Protein Ligases

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

Relation: uri/info:pii/MDOI-RN-05-2003-159-5-C1-0035-3787-101019-ART1; uri/info:pmid/12773895; https://dipot.ulb.ac.be/dspace/bitstream/2013/53472/1/Le syndrome d Angelman.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53472

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53472
https://dipot.ulb.ac.be/dspace/bitstream/2013/53472/1/Le syndrome d Angelman.pdf

المؤلفون: Hou, Craig E, Schlaggar, Bradley L, Racette, Brad A

المصدر: Neurology

مصطلحات موضوعية: Abnormalities, Multiple, Botulinum Toxins, Type A (therapeutic use), Child, Chromosomes, Human, Pair 21 (genetics), Dystonia (genetics), Female, Humans, Karyotyping, Neuromuscular Agents (therapeutic use), Point Mutation (genetics), Ring Chromosomes, Torticollis (diagnosis, drug therapy)

Relation: https://scholar.barrowneuro.org/neurology/1119; https://doi.org/10.1002/mds.10621

الاتاحة: https://scholar.barrowneuro.org/neurology/1119
https://doi.org/10.1002/mds.10621

المؤلفون: Ruf, Viktoria C, Nübling, Georg S, Willikens, Sophia, Shi, Song, Schmidt, Felix, Levin, Johannes, Bötzel, Kai, Kamp, Frits, Giese, Armin

المصدر: ACS chemical neuroscience 10(3), 1649-1659 (2019). doi:10.1021/acschemneuro.8b00579

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Humans, Lipids: chemistry, Mutation: genetics, Parkinson Disease: metabolism, Point Mutation: genetics, Protein Aggregates, Protein Aggregation, Pathological: metabolism, Spectrometry, Fluorescence: methods, alpha-Synuclein: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:30605594; info:eu-repo/semantics/altIdentifier/issn/1948-7193; https://pub.dzne.de/record/140595; https://pub.dzne.de/search?p=id:%22DZNE-2020-06917%22

الاتاحة: https://pub.dzne.de/record/140595
https://pub.dzne.de/search?p=id:%22DZNE-2020-06917%22

المؤلفون: Beck, J S, Kwitek, A E, Cogen, P H, Metzger, A K, Duyk, G M, Sheffield, V C

المصدر: Neurosurgery

مصطلحات موضوعية: Base Sequence, Electrophoresis, Gel, Pulsed-Field (methods), Genes, p53 (genetics), Humans, Molecular Sequence Data, Point Mutation (genetics)

Relation: https://scholar.barrowneuro.org/neurosurgery/1899; https://doi.org/10.1007/BF00230217

الاتاحة: https://scholar.barrowneuro.org/neurosurgery/1899
https://doi.org/10.1007/BF00230217