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: 32 Biomedical and Clinical Sciences, 3209 Neurosciences, 3202 Clinical Sciences, Human Genome, Brain Disorders, Neurosciences, Genetics, Biotechnology, Clinical Research, Neurodegenerative, Pediatric, 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

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_75293; https://doi.org/10.1212/WNL.0000000000011655

الاتاحة: http://hdl.handle.net/1959.4/unsworks_75293
https://unsworks.unsw.edu.au/bitstreams/dade898d-725f-4402-b592-186f98db45be/download
https://doi.org/10.1212/WNL.0000000000011655

المؤلفون: Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Rosa, ID, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, Mitchell, ALR, Jackson, D, Sesay, A, Di Re, M, van den Heuvel, LP, Burke, D, Francis, D, Lunke, S, McGillivray, G, Mandelstam, S, Mochel, F, Keren, B, Jardel, C, Turner, AM, Andrews, PI, Smeitink, J, Spelbrink, JN, Heales, SJ, Kohda, M, Ohtake, A, Murayama, K, Okazaki, Y, Lombes, A, Holt, IJ, Thorburn, DR, Spinazzola, A

المصدر: Brain , 140 (6) pp. 1595-1610. (2017)

مصطلحات موضوعية: mitochondrial DNA, mitochondrial disease, cerebellar hypoplasia, ATAD3, cholesterol

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1556521/1/ATAD3.pdf; https://discovery.ucl.ac.uk/id/eprint/1556521/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1556521/1/ATAD3.pdf
https://discovery.ucl.ac.uk/id/eprint/1556521/

المؤلفون: Farrar, MA, Lee, MJ, Howells, J, Andrews, PI, Lin, CSY

المصدر: urn:ISSN:0304-3959 ; urn:ISSN:1872-6623 ; Pain, 158, 5, 900-911

مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, 3209 Neurosciences, 3202 Clinical Sciences, Chronic Pain, Pain Research, Clinical Research, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Axons, Case-Control Studies, Child, Computer Simulation, Erythromelalgia, Female, Humans, Male, Middle Aged, Models, Biological, Mutation, NAV1.7 Voltage-Gated Sodium Channel, Neural Conduction, Pain, Severity of Illness Index, Temperature, Young Adult

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_48410; https://doi.org/10.1097/j.pain.0000000000000856

الاتاحة: http://hdl.handle.net/1959.4/unsworks_48410
https://unsworks.unsw.edu.au/bitstreams/85069dbf-227a-4923-b716-0b3cf7301f4b/download
https://doi.org/10.1097/j.pain.0000000000000856

المؤلفون: Stelzer-Braid, S, Wynn, M, Chatoor, R, Scotch, M, Ramachandran, V, Teoh, H-L, Farrar, MA, Sampaio, H, Andrews, PI, Craig, ME, MacIntyre, CR, Varadhan, H, Kesson, A, Britton, PN, Newcombe, J, Rawlinson, WD

مصطلحات موضوعية: 0605 Microbiology, 1103 Clinical Sciences, 1108 Medical Microbiology, Virology, Humans, Enterovirus A, Human, Enterovirus Infections, Cities, Disease Outbreaks, Phylogeny, Genotype, Genome, Viral, Child, Preschool, Infant, Newborn, Vietnam, China, Australia, Female, Male, Genetic Variation, Phylogeography, High-Throughput Nucleotide Sequencing

وصف الملف: Print-Electronic; application/pdf

Relation: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology; Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology, 2020, 122, pp. 104216; http://hdl.handle.net/10453/147977

الاتاحة: http://hdl.handle.net/10453/147977

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

Relation: 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.26147.; http://hdl.handle.net/11343/298741

الاتاحة: http://hdl.handle.net/11343/298741

المؤلفون: Suresh S, Rawlinson WD, Andrews PI, Stelzer-Braid S

مصطلحات موضوعية: 1108 Medical Microbiology, Virology

وصف الملف: Print-Electronic; application/pdf

Relation: Reviews in medical virology; Reviews in medical virology, 2020, 30, (1); http://hdl.handle.net/10453/144679

الاتاحة: http://hdl.handle.net/10453/144679

المؤلفون: Stelzer-Braid, S, Wynn, M, Chatoor, R, Scotch, M, Ramachandran, V, Teoh, H-L, Farrar, MA, Sampaio, H, Andrews, PI, Craig, ME, MacIntyre, CR, Varadhan, H, Kesson, A, Britton, PN, Newcombe, J, Rawlinson, WD

مصطلحات موضوعية: Male, China, Genotype, Infant, Newborn, Australia, Infant, Genetic Variation, High-Throughput Nucleotide Sequencing, Genome, Viral, Enterovirus A, Human, Disease Outbreaks, Phylogeography, Vietnam, Virology, Child, Preschool, Enterovirus Infections, Humans, Female, Cities, Child, Phylogeny, 0605 Microbiology, 1103 Clinical Sciences, 1108 Medical Microbiology

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______363::f994bfd467f2808085d5b4a009198132
https://hdl.handle.net/10453/147977

المؤلفون: Suresh S, Rawlinson WD, Andrews PI, Stelzer-Braid S

مصطلحات موضوعية: 1108 Medical Microbiology, Virology

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______363::77a1d76c551806cbe5b9ddeaff1514c4
https://hdl.handle.net/10453/144679

المؤلفون: Stelzer-Braid, S, Wynn, M, Chatoor, R, Scotch, M, Ramachandran, V, Teoh, H-L, Farrar, MA, Sampaio, H, Andrews, PI, Craig, ME, MacIntyre, CR, Varadhan, H, Kesson, A, Britton, PN, Newcombe, J, Rawlinson, WD

مصطلحات الفهرس: 0605 Microbiology, 1103 Clinical Sciences, 1108 Medical Microbiology, Journal Article

URL: http://hdl.handle.net/10453/147977
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology
10.1016/j.jcv.2019.104216

المؤلفون: Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP, Urreizti R

المصدر: Medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2e7f099e02db95aa7a9bbed4ad723c11
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16006

المؤلفون: van Berge, L, Hamilton, EM, Linnankivi, T, Uziel, G, Steenweg, ME, Isohanni, P, Wolf, NI, Krageloh-Mann, I, Brautaset, NJ, Andrews, PI, de Jong, BA, al Ghamdi, M, Van Wieringen, WN, Tannous, BA, Hulleman, E, Wurdinger, T, van Berkel, CGM, Polder, E, Abbink, TEM, Struys, EA, Scheper, GC, van der Knaap, MS

المصدر: van Berge , L , Hamilton , EM , Linnankivi , T , Uziel , G , Steenweg , ME , Isohanni , P , Wolf , NI , Krageloh-Mann , I , Brautaset , NJ , Andrews , PI , de Jong , BA , al Ghamdi , M , Van Wieringen , WN , Tannous , BA , Hulleman , E , Wurdinger , T , van Berkel , CGM , Polder , E , Abbink , TEM , Struys , EA , Scheper , GC & van der Knaap , MS 2014 , ' Leukoencephalopathy with ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

الاتاحة: https://pure.eur.nl/en/publications/85b3873d-4751-4664-8449-d9ae30e89d49
https://doi.org/10.1093/brain/awu026

المؤلفون: Nolan MA, Craig ME, Lahra MM, Rawlinson WD, Prager PC, Williams GD, Bye AME, Andrews PI, Nolan, M A, Craig, M E, Lahra, M M, Rawlinson, W D, Prager, P C, Williams, G D, Bye, A M E, Andrews, P I

المصدر: Neurology; 2003 May 27, Vol. 60 Issue 10, p1651-1656, 6p

المؤلفون: Farrar MA, Lin CS, Krishnan AV, Park SB, Andrews PI, Kiernan MC

المصدر: Pediatrics; Sep2010, Vol. 126 Issue 3, pe734-9, 1p

المؤلفون: Andrews, Pierre Y.

مصطلحات موضوعية: 300.285

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.503304