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1دورية أكاديمية
المؤلفون: Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM
المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 28, 2, 668-697
مصطلحات موضوعية: Neurosciences, Genetics, Pediatric, Clinical Research, Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_85769Test; https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest; https://doi.org/10.1038/s41380-022-01852-9Test
الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
http://hdl.handle.net/1959.4/unsworks_85769Test
https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest -
2دورية أكاديمية
المؤلفون: Manole, A., Efthymiou, S., O'Connor, E., Mendes, M. I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M. R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C. S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Nuzhat, R., Ilyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L. B., Benyekhlef, K., Aslanger, A. D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K. M., Wang, L., Rasim, R. O., Paracha, S. A., Sarwar, M. T., Jenkins, D., Synaps group, Aguennouz, M., Di Rosa, G., Ahmed, J, Santoni, F. A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I. M., Guillen Sacoto, M., Si, Y., Telegrafi, A., Andrews, M. V., Baldridge, D., Gabriel, H., Mohr, J., Oehl-Jaschkowitz, B., Debard, S., Senger, B., Fischer, F., van Ravenwaaij, C., Fock, A. J., Stevens, S. J. C., Bahler, J., Nasar, A., Mantovani, J. F., Manzur, A., Sarkozy, A., Smith, D. E. C., Salomons, G. S., Ahmed, Z. M., Riazuddin, S., Usmani, M. A., Seibt, A., Ansar, M., Antonarakis, S. E., Vincent, J. B., Ayub, M., Grimmel, M., Jelsig, A. M., Hjortshøj, T. D., Karstensen, H. G., Hummel, M., Haack, T. B., Jamshidi, Y., Distelmaier, F., Horvath, R., Gleeson, J. G., Becker, H., Mandel, J. -L., Koolen, D. A., Houlden, H.
المساهمون: Manole, A., Efthymiou, S., O'Connor, E., Mendes, M. I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M. R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C. S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Nuzhat, R., Ilyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L. B., Benyekhlef, K., Aslanger, A. D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K. M., Wang, L., Rasim, R. O., Paracha, S. A., Sarwar, M. T., Jenkins, D., Synaps, Group, Aguennouz, M., Di Rosa, G., Ahmed, J, Santoni, F. A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I. M., Guillen Sacoto, M., Si, Y., Telegrafi, A., Andrews, M. V., Baldridge, D., Gabriel, H., Mohr, J., Oehl-Jaschkowitz, B., Debard, S., Senger, B., Fischer, F., van Ravenwaaij, C., Fock, A. J., Stevens, S. J. C., Bahler, J., Nasar, A., Mantovani, J. F., Manzur, A., Sarkozy, A., Smith, D. E. C., Salomons, G. S., Ahmed, Z. M., Riazuddin, S., Usmani, M. A., Seibt, A., Ansar, M., Antonarakis, S. E., Vincent, J. B., Ayub, M., Grimmel, M., Jelsig, A. M., Hjortshøj, T. D., Karstensen, H. G., Hummel, M., Haack, T. B., Jamshidi, Y., Distelmaier, F., Horvath, R., Gleeson, J. G., Becker, H., Mandel, J. -L., Koolen, D. A., Houlden, H.
مصطلحات موضوعية: aminoacyl-tRNA synthetase, developmental delay, epilepsy, neurodevelopment, neuropathy, next generation sequencing, Allele, Amino Acyl-tRNA Synthetase, Aspartate-tRNA Ligase, Cell Line, Female, Gain of Function Mutation, Genetic Predisposition to Disease, Human, Loss of Function Mutation, Male, Neurodevelopmental Disorder, Pedigree, RNA, Transfer, Amino Acyl, Stem Cells
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32738225; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800011; volume:107; issue:2; firstpage:311; lastpage:324; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11570/3198993Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088934445
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3دورية أكاديمية
المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC
المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)
مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139869Test/
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4دورية أكاديمية
المؤلفون: Bernhard, W., Shunova, A., Machann, J., Grimmel, M., Haack, T.B., Utz, P., Graepler-Mainka, U.
المصدر: Nutrition 89:111348 (2021)
مصطلحات موضوعية: Bile, Cf, Choline, Enterohepatic Cycle, Lipoproteins, Phosphatidylcholine, Steatosis, Rs12325817
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34217074; info:eu-repo/semantics/altIdentifier/wos/WOS:000691283500002; info:eu-repo/semantics/altIdentifier/isbn/0899-9007; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62422Test; urn:isbn:0899-9007; urn:issn:0899-9007; urn:issn:1873-1244
الإتاحة: https://doi.org/10.1016/j.nut.2021.111348Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62422Test -
5دورية أكاديمية
المؤلفون: Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, ., Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
المصدر: American Journal of Human Genetics , 107 (2) pp. 311-324. (2020)
مصطلحات موضوعية: aminoacyl-tRNA synthetase, developmental delay, epilepsy, neurodevelopment, neuropathy, next generation sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10107091Test/
الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10107091Test/ -
6دورية أكاديمية
المؤلفون: Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M.C., Besse, A., Ng, A.C.H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Ghasemi Firouzabadi, S., Huebner, A.K., Buchert, R., Beck-Woedl, S., Müller, A.J., Laugwitz, L., Nägele, T., Wang, Z.Q., Strom, T.M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C.A., Deschauer, M., Mayr, J.A., Bonnen, P.E., Krägeloh-Mann, I., Wortmann, S.B., Haack, T.B.
المصدر: Am. J. Hum. Genet. 107, 364-373 (2020)
مصطلحات موضوعية: Developmental Delay, Encephalopathy, Exome Sequencing, Hereditary Spastic Paraplegia, Hpdl, Leigh-like Syndrome, Mitochondrial Metabolism, Movement Disorder
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32707086; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.015Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59885Test -
7تقرير
المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.
مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267Test; American journal of human genetics; PMC8546233
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
https://rde.dspace-express.com/handle/11287/622267Test -
8دورية أكاديمية
المؤلفون: Palmer, Elizabeth E., Pusch, Michael, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Picollo, Alessandra, Rajagopalan, Sulekha, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Forwood, Caitlin, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Nguyen, Matthew H., Dupuis, L, Mendoza-Londono, R, Dudding-Byth, Tracy, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Suckow, Vanessa, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Gibbons, Jessica, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Hoff, Alva, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Sigfrid, Lisa, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Megarbane, Andre, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM
المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health
العلاقة: Molecular Psychiatry Vol. 28, Issue 2, p. 668-697; http://hdl.handle.net/1959.13/1480388Test; uon:50492
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9دورية أكاديمية
المؤلفون: Ramond, F., Dalgliesh, C., Grimmel, M., Wechsberg, O., Vetro, A., Guerrini, R., FitzPatrick, D., Poole, R. L., Lebrun, M., Bayat, A., Grasshoff, U., Bertrand, M., Witt, D., Turnpenny, P. D., Faundes, V., Santa María, L., Mendoza Fuentes, C., Mabe, P., Hussain, S. A., Mullegama, S. V., Torti, E., Oehl-Jaschkowitz, B., Salmon, L. B., Orenstein, N., Shahar, N. R., Hagari, O., Bazak, L., Hoffjan, S., Prada, C. E., Haack, T., Elliott, D. J.
مصطلحات موضوعية: Epilepsy, Infantile spasms, Intellectual disability, Molecular genetics, TRA2B, authors declare no conflicts of interest
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)01070-X; Genet Med. 2022 Dec 20;25(4):100003. doi:10.1016/j.gim.2022.100003.; Genetics in medicine; https://hdl.handle.net/11287/622798Test
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10دورية أكاديمية
المؤلفون: Thiels, C., Lücke, T., Rothoeft, T., Lukas, C., Nguyen, H. P., von Kleist-Retzow, J. C., Prokisch, H., Grimmel, M., Haack, T. B., Hoffjan, S.
المصدر: Neuropediatrics ; ISSN 0174-304X 1439-1899
النص الكامل