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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G, De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
المصدر: Johnson , K , Bertoli , M , Phillips , L , Töpf , A , Van den Bergh , P , Vissing , J , Witting , N , Nafissi , S , Jamal-Omidi , S , Łusakowska , A , Kostera-Pruszczyk , A , Potulska-Chromik , A , Deconinck , N , Wallgren-Pettersson , C , Strang-Karlsson , S , Colomer , J , Claeys , K G , De Ridder , W , Baets , J , von der Hagen , M , Fernández-Torrón , R , Zulaica Ijurco , M , Espinal Valencia , J ....
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dystroglycans/metabolism, Female, Genetic Predisposition to Disease, Genetic Variation, Glycosylation, Heterozygote, Homozygote, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Whole Exome Sequencing/methods, Young Adult
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13395-018-0170-1Test
https://curis.ku.dk/portal/da/publications/detection-of-variants-in-dystroglycanopathyassociated-genes-through-the-application-of-targeted-wholeexome-sequencing-analysis-to-a-large-cohort-of-patients-with-unexplained-limbgirdleTest-muscle-weakness(0068e518-f9ce-4b5f-b7f2-313ed225bc7e).html
https://curis.ku.dk/ws/files/218088378/s13395_018_0170_1.pdfTest -
3
المؤلفون: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais
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 de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), 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), 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 [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), 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), 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), 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)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mühendislik ve Doğa Bilimleri Fakültesi
المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurolمصطلحات موضوعية: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: 1 full-text file(s): application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881c9cf3fea17bc40c4af016cc68a5c5Test
https://doi.org/10.1002/ana.25660Test -
4دورية 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 -
5دورية أكاديمية
المؤلفون: Wargon, I., Richard, P., Kuntzer, T., Sternberg, D., Nafissi, S., Gaudon, K., Lebail, A., Bauche, S., Hantaï, D., Fournier, E., Eymard, B., Stojkovic, T.
المصدر: Neuromuscular Disorders, vol. 22, no. 4, pp. 318-324
مصطلحات موضوعية: Acetylcholinesterase/deficiency, Acetylcholinesterase/genetics, Adolescent, Adult, Child, Preschool, Collagen/genetics, Collagen/metabolism, Disease Progression, Female, Follow-Up Studies, Genetic Association Studies, Humans, Male, Middle Aged, Muscle Proteins/genetics, Muscle Proteins/metabolism, Mutation/genetics, Myasthenic Syndromes, Congenital/diagnosis, Congenital/genetics, Phenotype, Recurrence, Treatment Outcome, Young Adult
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22088788; info:eu-repo/semantics/altIdentifier/eissn/1873-2364; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F02C6FAA938E2; https://serval.unil.ch/notice/serval:BIB_F02C6FAA938ETest; urn:issn:0960-8966; https://serval.unil.ch/resource/serval:BIB_F02C6FAA938E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F02C6FAA938E2Test
الإتاحة: https://doi.org/10.1016/j.nmd.2011.09.002Test
https://serval.unil.ch/notice/serval:BIB_F02C6FAA938ETest
https://serval.unil.ch/resource/serval:BIB_F02C6FAA938E.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F02C6FAA938E2Test -
6دورية أكاديمية
المؤلفون: Engelse, M.A. (Marten), Neele, J.M., Achterberg, T.A.E. (Tanja) van, Aken, B.E. (Benien) van, Schaik, R.H.N. (Ron) van, Pannekoek, H. (Hans), Vries, C.J.M. (Carlie) de
المصدر: Circulation Research
مصطلحات موضوعية: Actins/genetics, Activin Receptors, Activins, Adult, Aged, Arteriosclerosis/*metabolism, Blood Vessels/metabolism, Cells, Cultured, Child, Female, Follistatin, Glycoproteins/genetics, Humans, Inhibins/genetics/*metabolism, Male, Microfilament Proteins/genetics, Middle aged, Muscle Proteins/genetics, Muscle, Smooth, Vascular/*metabolism/pathology/physiopathology, Phenotype, RNA, Messenger/metabolism, Receptors, Growth Factor/genetics, Research Support, Non-U.S. Gov't, Vasoconstriction/genetics
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/9192Test; urn:hdl:1765/9192
الإتاحة: http://repub.eur.nl/pub/9192Test
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7
المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Gallardo, Eduard, de Luna Salva, Noemí, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Gonzalez-Quereda, L., Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Universitat Autònoma de Barcelona
المصدر: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE, 6(12)
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
Gallardo, E, de Luna, N, Diaz-Manera, J, Rojas-García, R, Gonzalez-Quereda, L, Flix, B, de Morrée, A, van der Maarel, S & Illa, I 2011, ' Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy ', PLOS ONE, vol. 6, no. 12, pp. e29061 . https://doi.org/10.1371/journal.pone.0029061Testمصطلحات موضوعية: Male, Pathology, Anatomy and Physiology, dysferlin myopathy, Biopsy, DNA Mutational Analysis, Lipopolysaccharide Receptors, Muscle Proteins, DYSF protein, human, Protein Synthesis, medicine.disease_cause, preschool child, Biochemistry, Muscular Dystrophies, Monocytes, Western blotting, Dysferlin, Monocytes/metabolism, membrane protein, genetics, gene mutation, Musculoskeletal System, comparative study, limb girdle muscular dystrophy, Muscle Proteins/genetics, Mutation, child, clinical article, Multidisciplinary, biology, medicine.diagnostic_test, adult, article, Neuromuscular Diseases, dysferlinopathy, aged, medicine.anatomical_structure, female, Neurology, immunohistochemistry, monocyte, Blood Chemistry, Lipopolysaccharide Receptors/metabolism, Immunohistochemistry, Muscle, Medicine, Female, dysferlin gene, medicine.symptom, muscle biopsy, myopathy, Research Article, mutational analysis, Adult, Dysferlinopathy, medicine.medical_specialty, Mutation/genetics, Science, Muscular Dystrophies, Limb-Girdle/diagnosis, muscle protein, Antigens, CD14, medicine, Humans, controlled study, human, Membrane Proteins/genetics, skeletal muscle, Myopathy, gene, Muscle, Skeletal, protein expression, Biology, Muscle, Skeletal/metabolism, Muscle biopsy, Plasma Proteins, human cell, solubility, Skeletal muscle, Proteins, Membrane Proteins, nucleotide sequence, CD14 antigen, medicine.disease, human tissue, dysferlin, Muscular Dystrophies, Limb-Girdle, Solubility, adolescent, biology.protein, gene expression, pathology, metabolism
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49021bb466532c6b22e57fd3201a9de0Test
http://europepmc.org/articles/PMC3241698Test -
9دورية أكاديمية
المؤلفون: Bruno, M K, Lee, Hsien-Yang, Auburger, Georg W J, Friedman, Andrzej, Nielsen, Jorgen E, Lang, Anthony E, Bertini, Enrico, Van Bogaert, Patrick, Averyanov, Yuri, Hallett, M., Gwinn-Hardy, K, Sorenson, B, Pandolfo, Massimo, Kwiecinski, H, Servidei, Serenella, Fu, Ying-Hui, Ptácek, Louis J
المصدر: Neurology, 68 (21
مصطلحات موضوعية: Génétique moléculaire, Adolescent, Adult, Age of Onset, Caffeine -- adverse effects, Child, Preschool, Chorea -- genetics -- metabolism -- physiopathology, DNA Mutational Analysis, Dystonia -- genetics -- metabolism -- physiopathology, Ethanol -- adverse effects, Female, Genetic Markers -- genetics, Genetic Predisposition to Disease -- genetics, Genetic Testing, Genotype, Humans, Male, Muscle Proteins -- genetics, Mutation -- genetics, Pedigree, Penetrance, Stress, Psychological -- complications
وصف الملف: No full-text files
العلاقة: uri/info:doi/10.1212/01.wnl.0000262029.91552.e0; uri/info:pii/68/21/1782; uri/info:pmid/17515540; uri/info:scp/34249086525; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108344Test
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10
المؤلفون: T. De Ravel, Desire Collen, Gert Matthijs, Cuno Kuiperi, Els Schollen, Hein Heidbuchel, Peter Carmeliet, T Rossenbacker, Koenraad Devriendt
المساهمون: Clinical sciences, Medical Genetics, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Pathologic Biochemistry and Physiology
المصدر: Journal of medical genetics. 42(5)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Splicing, Arrhythmias, Cardiac/genetics, DNA Mutational Analysis, Sodium Channels/genetics, Muscle Proteins, NAV1.5 Voltage-Gated Sodium Channel, Biology, medicine.disease_cause, Models, Biological, Sodium Channels, Introns/genetics, Channelopathy, Molecular genetics, Genetics, Intronic Mutation, medicine, Humans, cardiovascular diseases, Allele, RNA Splice Sites/genetics, Child, Genetics (clinical), Alleles, Brugada syndrome, RNA Splicing/physiology, Aged, Muscle Proteins/genetics, Mutation, Arrhythmias, Cardiac, Syndrome, Middle Aged, medicine.disease, Molecular biology, Phenotype, Introns, Pedigree, cardiovascular system, Female, RNA Splice Sites, Online Mutation Report
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e33e2a649a63317eead4dc7ce2c95Test
https://pubmed.ncbi.nlm.nih.gov/15863661Test