المؤلفون: Anguera, JA, Rowe, MA, Volponi, JJ, Elkurdi, M, Jurigova, B, Simon, AJ, Anguera-Singla, R, Gallen, CL, Gazzaley, A, Marco, EJ

المصدر: npj Digital Medicine. 6(1)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Prevention, Mental Health, Mind and Body, Neurosciences, Behavioral and Social Science, Pediatric, Clinical Research, Neurological, Mental health, Health services and systems

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2151w223Test

المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA

المصدر: American journal of human genetics. 100(4):650-658

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135465810Test

المؤلفون: Caverzasi, E, Mandelli, ML, Hoeft, F, Watson, C, Meyer, M, Allen, IE, Papinutto, N, Wang, C, Wheeler-Kingshott, CAMG, Marco, EJ, Mukherjee, P, Miller, ZA, Miller, BL, Hendren, R, Shapiro, KA, Gorno-Tempini, ML

المصدر: NEUROIMAGE-CLINICAL. 18

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8rd14920Test

المؤلفون: Sherr, Elliott, Anguera, JA, Brandes-Aitken, AN, Rolle, CE, Skinner, SN, Desai, SS, Bower, JD, Martucci, WE, Chung, WK, Sherr, EH, Marco, EJ

الوصول الحر: https://escholarship.org/uc/item/76z7q250Test

المؤلفون: Mukherjee, Pratik, Marco, Elysa, Chang, YS, Owen, JP, Desai, SS, Hill, SS, Arnett, AB, Harris, J, Marco, EJ

الوصول الحر: https://escholarship.org/uc/item/339179q7Test

المؤلفون: Wickremasinghe, AC, Rogers, EE, Johnson, BC, Shen, A, Barkovich, AJ, Marco, EJ

المصدر: Journal of Perinatology. 33(8)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Clinical Research, Prevention, Pediatric Research Initiative, Neurosciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Cross-Sectional Studies, Follow-Up Studies, Humans, Infant, Infant, Premature, Sensation Disorders, Sensory Profile, prematurity, sensory behavior, follow-up, Clinical Sciences, Paediatrics and Reproductive Medicine, Pediatrics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/69m8w3f5Test

المؤلفون: Marco, Elysa, Owen, JP, Marco, EJ, Desai, S, Fourie, E, Harris, J, Hill, SS, Arnett, AB, Mukherjee, P

الوصول الحر: https://escholarship.org/uc/item/4q03q699Test

المؤلفون: Sa, MJ Nabais, Jensik, PJ, Parker, MJ, Lahiri, N, McNeil, EP, Hibbs, K, Kroes, HY, Stumpel, CTRM, Stegmann, APA, Hagerman, RJ, Harrison, RE, Splitt, M, Montgomery, T, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Cobben, J, Marco, EJ, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth

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

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_62875Test; https://unsworks.unsw.edu.au/bitstreams/739b7c87-ded6-4918-b64d-13d54dd9cbb9/downloadTest; https://doi.org/10.26190/unsworks/27465Test

الإتاحة: https://doi.org/10.26190/unsworks/27465Test
http://hdl.handle.net/1959.4/unsworks_62875Test
https://unsworks.unsw.edu.au/bitstreams/739b7c87-ded6-4918-b64d-13d54dd9cbb9/downloadTest

المؤلفون: Nabais Sá, MJ, Jensik, PJ, McGee, SR, Parker, MJ, Lahiri, N, McNeil, EP, Kroes, HY, Hagerman, RJ, Harrison, RE, Montgomery, T, Splitt, M, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Amiel, J, Heron, D, Keren, B, Cobben, JM, Menke, LA, Marco, EJ, Graham, JM, Pierson, TM, Karimiani, EG, Maroofian, R, Manzini, MC, Cauley, ES, Colombo, R, Odent, S, Dubourg, C, Phornphutkul, C, de Brouwer, APM, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth

المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 21, 9, 2059-2069

مصطلحات موضوعية: Brain Disorders, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurosciences, 2.1 Biological and endogenous factors, 2 Aetiology, Adolescent, Adult, Alleles, Autistic Disorder, Child, Preschool, DNA-Binding Proteins, Developmental Disabilities, Exome, Female, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Microcephaly, Mutation, Missense, Transcription Factors, Young Adult, DEAF1, genotype, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61595Test; https://unsworks.unsw.edu.au/bitstreams/38f26991-1f4b-4f11-80af-2194e289890e/downloadTest; https://doi.org/10.1038/s41436-019-0473-6Test

الإتاحة: https://doi.org/10.1038/s41436-019-0473-6Test
http://hdl.handle.net/1959.4/unsworks_61595Test
https://unsworks.unsw.edu.au/bitstreams/38f26991-1f4b-4f11-80af-2194e289890e/downloadTest

المؤلفون: Spinelli, E, Christensen, KR, Bryant, E, Schneider, A, Rakotomamonjy, J, Muir, AM, Giannelli, J, Littlejohn, RO, Roeder, ER, Schmidt, B, Wilson, WG, Marco, EJ, Iwama, K, Kumada, S, Pisano, T, Barba, C, Vetro, A, Brilstra, EH, Jaarsveld, RH, Matsumoto, N, Goldberg-Stern, H, Carney, PW, Andrews, PI, El Achkar, CM, Berkovic, S, Rodan, LH, McWalter, K, Guerrini, R, Scheffer, IE, Mefford, HC, Mandelstam, S, Laux, L, Millichap, JJ, Guemez-Gamboa, A, Nairn, AC, Carvill, GL

العلاقة: Spinelli, E., Christensen, K. R., Bryant, E., Schneider, A., Rakotomamonjy, J., Muir, A. M., Giannelli, J., Littlejohn, R. O., Roeder, E. R., Schmidt, B., Wilson, W. G., Marco, E. J., Iwama, K., Kumada, S., Pisano, T., Barba, C., Vetro, A., Brilstra, E. H., Jaarsveld, R. H. ,. Carvill, G. L. (2021). Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. ANNALS OF NEUROLOGY, 90 (2), pp.274-284. https://doi.org/10.1002/ana.26147Test.; http://hdl.handle.net/11343/298741Test

الإتاحة: https://doi.org/10.1002/ana.26147Test
http://hdl.handle.net/11343/298741Test