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1دورية أكاديمية
المؤلفون: Capri, M, Conte, M, Ciurca, E, Pirazzini, C, Garagnani, P, Santoro, A, Longo, F, Salvioli, S, Lau, P, Moeller, R, Jordan, J, Illig, T, Villanueva, MM, Gruber, M, Burkle, A, Franceschi, C, Rittweger, J
المصدر: Ageing research reviews. 87:101909
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية 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 -
3دورية أكاديمية
المؤلفون: Ng, BG, Eklund, EA, Shiryaev, SA, Dong, YY, Abbott, M-A, Asteggiano, C, Bamshad, MJ, Barr, E, Bernstein, JA, Chelakkadan, S, Christodoulou, J, Chung, WK, Ciliberto, MA, Cousin, J, Gardiner, F, Ghosh, S, Graf, WD, Grunewald, S, Hammond, K, Hauser, NS, Hoganson, GE, Houck, KM, Kohler, JN, Morava, E, Larson, AA, Liu, P, Madathil, S, McCormack, C, Meeks, NJL, Miller, R, Monaghan, KG, Nickerson, DA, Palculict, TB, Papazoglu, GM, Pletcher, BA, Scheffer, IE, Schenone, AB, Schnur, RE, Si, Y, Rowe, LJ, Russi, AHS, Russo, RS, Thabet, F, Tuite, A, Villanueva, MM, Wang, RY, Webster, R, Wilson, D, Zalan, A, Wolfe, LA, Rosenfeld, JA, Rhodes, L, Freeze, HH
العلاقة: Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M. -A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., Ciliberto, M. A., Cousin, J., Gardiner, F., Ghosh, S., Graf, W. D., Grunewald, S., Hammond, K. ,. Freeze, H. H. (2020). Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (6), pp.1333-1348. https://doi.org/10.1002/jimd.12290Test.; http://hdl.handle.net/11343/276107Test
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المؤلفون: Palmer, EE, Hong, S, Al Zahrani, F, Hashem, MO, Aleisa, FA, Jalal Ahmed, HM, 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
مصطلحات موضوعية: anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences
العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61602Test; https://doi.org/10.1016/j.ajhg.2019.03.016Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.016Test
http://hdl.handle.net/1959.4/unsworks_61602Test -
5دورية أكاديمية
المؤلفون: Schoorl M, Linssen J, Villanueva MM, NoGuera JA, Martinez PH, Bartels PC
المصدر: American Journal of Clinical Pathology; Aug2012, Vol. 138 Issue 2, p300-304, 5p