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1دورية أكاديمية
المؤلفون: Palmer, EE, Sachdev, R, Macintosh, R, Melo, US, Mundlos, S, Righetti, S, Kandula, T, Minoche, AE, Puttick, C, Gayevskiy, V, Hesson, L, Idrisoglu, S, Shoubridge, C, Thai, MHN, Davis, RL, Drew, AP, Sampaio, H, Andrews, PI, Lawson, J, Cardamone, M, Mowat, D, Colley, A, Kummerfeld, S, Dinger, ME, Cowley, MJ, Roscioli, T, Bye, A, Kirk, E
المصدر: urn:ISSN:0028-3878 ; urn:ISSN:1526-632X ; Neurology, 96, 13, E1770-E1782
مصطلحات موضوعية: Human Genome, Genetics, Biotechnology, Clinical Research, Child, Preschool, Chromosome Inversion, Chromosomes, Human, Female, Humans, Infant, MEF2 Transcription Factors, Male, Nerve Tissue Proteins, Pathology, Molecular, Rho Guanine Nucleotide Exchange Factors, Spasms, Infantile, Exome Sequencing, Whole Genome Sequencing, anzsrc-for: 1103 Clinical Sciences, anzsrc-for: 1109 Neurosciences, anzsrc-for: 1702 Cognitive Sciences
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_75293Test; https://unsworks.unsw.edu.au/bitstreams/dade898d-725f-4402-b592-186f98db45be/downloadTest; https://doi.org/10.1212/WNL.0000000000011655Test
الإتاحة: https://doi.org/10.1212/WNL.0000000000011655Test
http://hdl.handle.net/1959.4/unsworks_75293Test
https://unsworks.unsw.edu.au/bitstreams/dade898d-725f-4402-b592-186f98db45be/downloadTest -
2دورية أكاديمية
المؤلفون: Palmer, EE, Sachdev, R, Macintosh, R, Kandula, T, Minoche, A, Puttick, C, Gayevskiy, V, Roscioli, T, Dinger, M, Hesson, L, Shoubridge, C, Drew, A, Davis, R, Kummerfeld, S, Cowley, M, Bye, A, Kirk, E
مصطلحات موضوعية: 0604 Genetics, 1103 Clinical Sciences
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3مؤتمر
المؤلفون: Palmer, EE, Hong, S, Al Zahrani, F, Hashem, M Omar, Aleisa, FA, Ahmed, HM Jalal, Kandula, T, Macintosh, R, Minoche, A, Puttick, C, Gayevskiy, V, Drew, AP, Cowley, MJ, Dinger, ME, Rosenfeld, JA, Xiao, R, Cho, MT, Henderson, LB, Sacoto, MJ Guillen, Begtrup, A, Hamad, M, Shinawi, M, Andrews, M, Jones, MC, Lindstrom, K, Kayani, S, Snyder, M, Villanueva, M, Schteinschnaider, A, Roscioli, T, Kirk, EP, Bye, A, Merzaban, J, Jaremko, L, Jaremko, M, Sachdev, RK, Alkuraya, FS, Arold, ST
المصدر: urn:ISSN:1018-4813 ; urn:ISSN:1476-5438 ; 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 2018-06-16 - 2018-06-19
مصطلحات موضوعية: anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences
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4دورية أكاديمية
المؤلفون: Palmer, EE, Hong, S, Al Zahrani, F, Hashem, MO, Aleisa, FA, Ahmed, HMJ, Kandula, T, Macintosh, R, Minoche, AE, Puttick, C, Gayevskiy, V, Drew, AP, Cowley, MJ, Dinger, M, Rosenfeld, JA, Xiao, R, Cho, MT, Yakubu, SF, Henderson, LB, Guillen Sacoto, MJ, Begtrup, A, Hamad, M, Shinawi, M, Andrews, MV, Jones, MC, Lindstrom, K, Bristol, RE, Kayani, S, Snyder, M, Villanueva, MM, Schteinschnaider, A, Faivre, L, Thauvin, C, Vitobello, A, Roscioli, T, Kirk, EP, Bye, A, Merzaban, J, Jaremko, Ł, Jaremko, M, Sachdev, RK, Alkuraya, FS, Arold, ST, Palmer, Elizabeth
المصدر: urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 104, 3, 542-552
مصطلحات موضوعية: Neurosciences, Genetics, Brain Disorders, Neurodegenerative, Rare Diseases, Pediatric, 2.1 Biological and endogenous factors, 2 Aetiology, Amino Acid Motifs, Child, Preschool, Female, Genetic Variation, Humans, Infant, Male, Nerve Tissue Proteins, Neurocognitive Disorders, Phenotype, Prognosis, Repetitive Sequences, Nucleic Acid, Syndrome, HX repeat, allelic disorders, developmental delay, dysmorphic, intellectual disability, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61596Test; https://unsworks.unsw.edu.au/bitstreams/952ea602-0409-4a76-b02d-a76236f19646/downloadTest; https://unsworks.unsw.edu.au/bitstreams/95107ff9-b37e-4516-a44b-02d8e01c2187/downloadTest; https://unsworks.unsw.edu.au/bitstreams/a97049ab-402c-490a-aabf-3e67dbed05c1/downloadTest; https://unsworks.unsw.edu.au/bitstreams/0171045e-3c21-4970-8ed2-59feed4317ce/downloadTest; https://doi.org/10.1016/j.ajhg.2019.01.013Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.01.013Test
http://hdl.handle.net/1959.4/unsworks_61596Test
https://unsworks.unsw.edu.au/bitstreams/952ea602-0409-4a76-b02d-a76236f19646/downloadTest
https://unsworks.unsw.edu.au/bitstreams/95107ff9-b37e-4516-a44b-02d8e01c2187/downloadTest
https://unsworks.unsw.edu.au/bitstreams/a97049ab-402c-490a-aabf-3e67dbed05c1/downloadTest
https://unsworks.unsw.edu.au/bitstreams/0171045e-3c21-4970-8ed2-59feed4317ce/downloadTest -
5دورية أكاديمية
المؤلفون: Kandula, T, Farrar, MA, Cohn, R, Mizrahi, D, Carey, K, Johnston, K, Kiernan, M, Krishnan, A, Park, SB
المصدر: urn:ISSN:2168-6149 ; urn:ISSN:2168-6157 ; JAMA Neurology, 75, 8, 980-988
مصطلحات موضوعية: Pediatric Cancer, Cancer, Neurosciences, Peripheral Neuropathy, Pediatric, Rehabilitation, Prevention, Chronic Pain, Neurodegenerative, Pain Research, Clinical Research, 2.1 Biological and endogenous factors, 2 Aetiology, Adolescent, Adult, Antineoplastic Agents, Cancer Survivors, Child, Cisplatin, Cost of Illness, Cross-Sectional Studies, Female, Humans, Long Term Adverse Effects, Male, Middle Aged, Motor Skills, Neoplasms, Patient Reported Outcome Measures, Peripheral Nervous System Diseases
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114801Test; http://hdl.handle.net/1959.4/unsworks_50674Test; https://unsworks.unsw.edu.au/bitstreams/1bbe97e3-b855-451c-bddf-abd8761ee8d3/downloadTest; https://doi.org/10.1001/jamaneurol.2018.0963Test
الإتاحة: https://doi.org/10.1001/jamaneurol.2018.0963Test
http://hdl.handle.net/1959.4/unsworks_50674Test
https://unsworks.unsw.edu.au/bitstreams/1bbe97e3-b855-451c-bddf-abd8761ee8d3/downloadTest -
6دورية أكاديمية
المؤلفون: Lai, YL, Van Heuven, A, Borire, A, Kandula, T, Colebatch, JG, Krishnan, AV, Huynh, W
المساهمون: Sommer, Claudia
المصدر: urn:ISSN:1932-6203 ; PLoS ONE, 13, 5, e0196917
مصطلحات موضوعية: Neurosciences, Pain Research, Clinical Research, Chronic Pain, Adolescent, Adult, Aged, 80 and over, Anxiety, Electrodiagnosis, Female, Humans, Male, Middle Aged, Pain, Prospective Studies
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_55252Test; https://unsworks.unsw.edu.au/bitstreams/baf69a69-d2c9-447e-a1af-0b484d51ef99/downloadTest; https://doi.org/10.1371/journal.pone.0196917Test
الإتاحة: https://doi.org/10.1371/journal.pone.0196917Test
http://hdl.handle.net/1959.4/unsworks_55252Test
https://unsworks.unsw.edu.au/bitstreams/baf69a69-d2c9-447e-a1af-0b484d51ef99/downloadTest -
7دورية أكاديمية
المؤلفون: Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, Zoghbi, HY, Palmer, Elizabeth
المصدر: urn:ISSN:0092-8674 ; urn:ISSN:1097-4172 ; Cell, 172, 5, 924-936.e11
مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological, Adolescent, Adult, Age of Onset, Aged, 80 and over, Animals, Base Sequence, Child, Preschool, Developmental Disabilities, Evolution, Molecular, Female, Gene Deletion, Genetic Predisposition to Disease, HEK293 Cells, Haploinsufficiency, Humans, Infant, Male, Mice, Middle Aged
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61598Test; https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest; https://doi.org/10.1016/j.cell.2018.02.006Test
الإتاحة: https://doi.org/10.1016/j.cell.2018.02.006Test
http://hdl.handle.net/1959.4/unsworks_61598Test
https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest -
8دورية أكاديمية
المؤلفون: Kandula, T, Farrar, MA, Krishnan, AV, Murray, J, Timmins, HC, Goldstein, D, Lin, CSY, Kiernan, MC, Park, SB
المصدر: urn:ISSN:0148-639X ; urn:ISSN:1097-4598 ; Muscle and Nerve, 57, 4, 615-621
مصطلحات موضوعية: Cancer, Digestive Diseases, Neurodegenerative, Peripheral Neuropathy, Neurosciences, Colo-Rectal Cancer, Neurological, Adult, Aged, Antineoplastic Agents, Colorectal Neoplasms, Female, Humans, Male, Middle Aged, Neural Conduction, Oxaliplatin, Peripheral Nervous System Diseases, Refractory Period, Electrophysiological, Sural Nerve, Young Adult, chemotherapy-induced peripheral neuropathy, colorectal cancer, neurophysiological assessments, neurotoxic chemotherapy, pre-existing neuropathy, subclinical peripheral neuropathy, anzsrc-for: 11 Medical and Health Sciences
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114801Test; http://hdl.handle.net/1959.4/unsworks_50184Test; https://unsworks.unsw.edu.au/bitstreams/d060f7f7-1317-4ead-a02c-584879407f96/downloadTest; https://doi.org/10.1002/mus.25968Test
الإتاحة: https://doi.org/10.1002/mus.25968Test
http://hdl.handle.net/1959.4/unsworks_50184Test
https://unsworks.unsw.edu.au/bitstreams/d060f7f7-1317-4ead-a02c-584879407f96/downloadTest -
9دورية أكاديمية
المؤلفون: Palmer, EE, Schofield, D, Shrestha, R, Kandula, T, Macintosh, R, Lawson, JA, Andrews, I, Sampaio, H, Johnson, AM, Farrar, MA, Cardamone, M, Mowat, D, Elakis, G, Lo, W, Zhu, Y, Ying, K, Morris, P, Tao, J, Dias, KR, Buckley, M, Dinger, ME, Cowley, MJ, Roscioli, T, Kirk, EP, Bye, A, Sachdev, RK, Palmer, Elizabeth
المصدر: urn:ISSN:2324-9269 ; Molecular Genetics and Genomic Medicine, 6, 2, 186-199
مصطلحات موضوعية: Genetics, Biotechnology, Brain Disorders, Health Services, Comparative Effectiveness Research, Clinical Research, Human Genome, Genetic Testing, Cost Effectiveness Research, Neurodegenerative, 4.4 Population screening, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, 4 Detection, screening and diagnosis, 3 Good Health and Well Being, Child, Preschool, Cost-Benefit Analysis, Epilepsy, Generalized, Exome, Female, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Infant, Newborn, Male, Nervous System Diseases
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_49243Test; https://unsworks.unsw.edu.au/bitstreams/a462fdd8-824d-4b0c-9aa0-d8b8e173cf19/downloadTest; https://doi.org/10.1002/mgg3.355Test
الإتاحة: https://doi.org/10.1002/mgg3.355Test
http://hdl.handle.net/1959.4/unsworks_49243Test
https://unsworks.unsw.edu.au/bitstreams/a462fdd8-824d-4b0c-9aa0-d8b8e173cf19/downloadTest -
10مؤتمر
المؤلفون: Farrar, MA, KAndula, T, Murray, J, Goldstein, D, Krishnan, A, PArk, S
المصدر: urn:ISSN:1388-2457 ; ANZAN Biennial Clinical Neurophysiology Workshop
مصطلحات موضوعية: Neurosciences, Cancer, Clinical Research, Colo-Rectal Cancer, Neurodegenerative, Peripheral Neuropathy, Digestive Diseases, 2.1 Biological and endogenous factors, 2 Aetiology, anzsrc-for: 09 Engineering, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114801Test; http://hdl.handle.net/1959.4/unsworks_43076Test; https://doi.org/10.1016/j.clinph.2015.11.029Test
الإتاحة: https://doi.org/10.1016/j.clinph.2015.11.029Test
http://hdl.handle.net/1959.4/unsworks_43076Test
