المؤلفون: Aroma Agape Gopalai, Shen-Yang Lim, Jing Yi Chua, Shelisa Tey, Thien Thien Lim, Norlinah Mohamed Ibrahim, Ai Huey Tan, Gaik Bee Eow, Zariah Abdul Aziz, Santhi Datuk Puvanarajah, Shanthi Viswanathan, Irene Looi, Soo Kun Lim, Li Ping Tan, Yip Boon Chong, Chong Tin Tan, Yi Zhao, E. K. Tan, Azlina Ahmad-Annuar

المصدر: BioMed Research International, Vol 2014 (2014)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2014/867321; https://doaj.org/toc/2314-6133; https://doaj.org/toc/2314-6141; https://doaj.org/article/496ed5909bf54f808c7c431a258152bf

الاتاحة: https://doi.org/10.1155/2014/867321
https://doaj.org/article/496ed5909bf54f808c7c431a258152bf

المؤلفون: Ingo Kurth, Andreas Ferbert, Fatima Barbara Koenig, Sabrina Zechel, Karl Christian Knop, Dorothea Mair, Wolfgang Brück, Stefan Nikolin, Wolfram Kress, Angela Abicht, Saskia Biskup, Shelisa Tey, Joachim Weis, Katja Eggermann

المصدر: Brain Pathology

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, medicine.disease_cause, Compound heterozygosity, 0302 clinical medicine, Muscular dystrophy, Exome sequencing, Research Articles, Sanger sequencing, Genetics, Mutation, medicine.diagnostic_test, General Neuroscience, High-Throughput Nucleotide Sequencing, Pompe disease, Middle Aged, 3. Good health, Phenotype, symbols, sarcotubular myopathy, Female, Research Article, Adult, muscular dystrophy, autophagy, next generation sequencing (NGS), Biology, Pathology and Forensic Medicine, myofibrillar myopathy, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, Muscular Diseases, Exome Sequencing, medicine, Humans, Genetic Testing, ddc:610, TRIM32, Genetic testing, FSHD, LDB3, vacuolar myopathy, medicine.disease, Lysosomal Storage Diseases, 030104 developmental biology, Neurology (clinical), glycogenin 1, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ca3ae597850fbd7587eba1b2d52859
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-216048

المؤلفون: Shelisa Tey, Marina L. Kennerson, Alexander P. Drew, Khean Jin Goh, Yesim Parman, Azlina Ahmad-Annuar, Byung-Ok Choi, Derek Atkinson, Michaela Auer-Grumbach, Ki Wha Chung, Garth A. Nicholson, Esra Battaloglu, Sarimah Samulong, Nortina Shahrizaila, Yi-Chung Li, Albena Jordanova

المصدر: Neurogenetics

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Biopsy, Mutant, Mutation, Missense, Loss of Heterozygosity, Locus (genetics), Genes, Recessive, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Consanguinity, 0302 clinical medicine, Genetic linkage, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Allele, Gene, Genetics (clinical), Exome sequencing, Alleles, Family Health, Neurons, Messenger RNA, Malaysia, Chromosome Mapping, Membrane Proteins, Fibroblasts, Human genetics, Pedigree, nervous system diseases, Cytoskeletal Proteins, 030104 developmental biology, Haplotypes, Female, Human medicine, Lod Score, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f7fac6a16c04b1f157dc6783d28843
https://hdl.handle.net/10067/1611880151162165141

المؤلفون: Shelisa Tey, Marina L. Kennerson, Alexander P. Drew, Garth A. Nicholson, Azlina Ahmad-Annuar, Nortina Shahrizaila

المصدر: Clinical Genetics. 90:127-133

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Hereditary spastic paraplegia, Biology, medicine.disease, medicine.disease_cause, DCTN1, 03 medical and health sciences, 030104 developmental biology, medicine, Dynactin, ACTR1B, Gene, ACTR1A, Exome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ca6275b93db5c45467dc456851b5d01
https://doi.org/10.1111/cge.12712

المؤلفون: Aditi Kidambi, Megan H. Brewer, Alexander P. Drew, Garth A. Nicholson, Shelisa Tey, Marina L. Kennerson, Carolyn Ly, Azlina Ahmad-Annuar, Danqing Zhu

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: inherited peripheral neuropathy, Genetics, BSCL2, Original Articles, Disease, Biology, Charcot-Marie-Tooth disease, BICD2, Phenotype, genetic diagnosis, Missense mutation, whole-exome sequencing, Genetic diagnosis, Molecular Biology, Gene, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5373d4396e80060dba7ae1f81491d79c
https://doi.org/10.1002/mgg3.126

المؤلفون: Nortina Shahrizaila, Alexander P. Drew, Azlina Ahmad-Annuar, Garth A. Nicholson, Shelisa Tey, Marina L. Kennerson

المصدر: neurogenetics. 15:229-235

مصطلحات موضوعية: Cytoplasmic Dyneins, Male, Genetics, Dynein, Catabolite repression, Peripheral Nervous System Diseases, Biology, Immunoglobulin light chain, Phenotype, Human genetics, Sensory neuron, Peripheral, DNA-Binding Proteins, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Mutation, medicine, Humans, Female, Genetic Testing, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7432764266d25bade57e44bb0df2237d
https://doi.org/10.1007/s10048-014-0414-0

المؤلفون: Sarimah Samulong, Lao Kah Meng, Khean Jin Goh, Shelisa Tey, Azlina Ahmad-Annuar, Liaw Chiew Suan, Nortina Shahrizaila

المصدر: Muscle & Nerve. 49:198-201

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Physiology, Point mutation, Disease, Biology, Southeast asian, Phenotype, Cellular and Molecular Neuroscience, Tooth disease, Physiology (medical), Internal medicine, Gene duplication, Cohort, Genotype, medicine, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8f831c6f9682aa80c414a8d04b5ff621
https://doi.org/10.1002/mus.23892

المؤلفون: Gaik Bee Eow, Yi Zhao, Thien T hien Lim, Yip B oon Chong, Shelisa Tey, Eng-King Tan, Shanthi Viswanathan, Zariah Abdul Aziz, Azlina Ahmad-Annuar, Chong T in Tan, Aroma Agape Gopalai, Santhi Datuk Puvanarajah, Ai H uey Tan, Norlinah Mohamed Ibrahim, Jing Y i Chua, Irene Looi, Li P ing Tan, Soo K un Lim, Shen-Yang Lim

المصدر: BioMed Research International
BioMed Research International, Vol 2014 (2014)

مصطلحات موضوعية: Male, medicine.medical_specialty, Parkinson's disease, Article Subject, lcsh:Medicine, Locus (genetics), Disease, Biology, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Malaysian population, Asian People, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Aged, Genetics, General Immunology and Microbiology, lcsh:R, Case-control study, Malaysia, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, LRRK2, Increased risk, Case-Control Studies, North african, Female, Research Article

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aa9540bfdf8703cc0346e8b58e682a9
https://pubmed.ncbi.nlm.nih.gov/25243190

المؤلفون: Nortina, Shahrizaila, Sarimah, Samulong, Shelisa, Tey, Liaw Chiew, Suan, Lao Kah, Meng, Khean Jin, Goh, Azlina, Ahmad-Annuar

المصدر: Musclenerve. 49(2)

مصطلحات موضوعية: Adult, Male, China, Malaysia, India, Connexins, GTP Phosphohydrolases, Cohort Studies, Mitochondrial Proteins, Asian People, Charcot-Marie-Tooth Disease, Prevalence, Humans, Point Mutation, Female, Genetic Testing, Myelin P0 Protein, Myelin Proteins, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a5211c40c47f25dc597974020e627c83
https://pubmed.ncbi.nlm.nih.gov/23649551

المؤلفون: Gopalai, Aroma Agape, Shen-Yang Lim, Jing Yi Chua, Shelisa Tey, Thien Thien Lim, Ibrahim, Norlinah Mohamed, Ai Huey Tan, Gaik Bee Eow, Aziz, Zariah Abdul, Puvanarajah, Santhi Datuk, Viswanathan, Shanthi, Looi, Irene, Soo Kun Lim, Li Ping Tan, Yip Boon Chong, Chong Tin Tan, Yi Zhao, E. K. Tan, Ahmad-Annuar, Azlina

المصدر: BioMed Research International; 2014, Vol. 2014, p1-4, 4p