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1دورية أكاديمية
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B
المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075
مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_78775Test; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest; https://doi.org/10.1016/j.xhgg.2021.100075Test
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/1959.4/unsworks_78775Test
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest -
2دورية أكاديمية
المؤلفون: Mulder, PA, van Balkom, IDC, Landlust, AM, Priolo, M, Menke, LA, Acero, IH, Alkuraya, FS, Arias, P, Bernardini, L, Bijlsma, EK, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, NH, Fahrner, JA, Foster, A, González, NG, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Kooblall, KG, Lapunzina, P, Liebelt, J, Lynch, SA, Maas, SM, Mammì, C, Mathijssen, IB, McKee, S, Mirzaa, GM, Montgomery, T, Neubauer, D, Neumann, TE, Pintomalli, L, Pisanti, MA, Plomp, AS, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, RV
العلاقة: https://ora.ox.ac.uk/objects/uuid:a882a0dc-121b-4d1b-99a5-2fe894bac10cTest; https://doi.org/10.1111/jir.12787Test
الإتاحة: https://doi.org/10.1111/jir.12787Test
https://ora.ox.ac.uk/objects/uuid:a882a0dc-121b-4d1b-99a5-2fe894bac10cTest -
3دورية أكاديمية
المؤلفون: Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, PA, Tenorio, J, Kooblall, K, Acero, IH, Alkuraya, FS, Arias, P, Bernardini, L, Bijlsma, EK, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, NH, Fahrner, JA, Foster, A, González, NG, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, SA, Maas, SM, Mammì, C, Mathijssen, IB, McKee, S, Menke, LA, Mirzaa, GM, Montgomery, T, Neubauer, D, Neumann, TE, Pintomalli, L, Pisanti, MA, Plomp, AS, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, RM, Van Haeringen, A, Van Hagen, JM, Zollino, M, Lapunzina, P, Thakker, RV, Zenker, M, Hennekam, RC
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109924/7/Priolo_et_al-2018-Human_Mutation.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109924/1/Priolo_et_al-2018-Human_Mutation.pdfTest; Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; et al. Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; Bijlsma, EK; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, NH; Fahrner, JA; Foster, A; González, NG; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Liebelt, J; Lynch, SA; Maas, SM; Mammì, C; Mathijssen, IB; McKee, S; Menke, LA; Mirzaa, GM; Montgomery, T; Neubauer, D; Neumann, TE; Pintomalli, L; Pisanti, MA; Plomp, AS; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Segovia, M; Shaw-Smith, C; Smithson, S; Suri, M; Valdez, RM; Van Haeringen, A; Van Hagen, JM; Zollino, M; Lapunzina, P; Thakker, RV; Zenker, M; Hennekam, RC (2018) Further delineation of Malan syndrome. Hum Mutat, 39 (9). pp. 1226-1237. ISSN 1098-1004 https://doi.org/10.1002/humu.23563Test SGUL Authors: Tatton-Brown, Katrina Louise
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4دورية أكاديمية
المؤلفون: Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.
المساهمون: M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshena, B. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallare, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijn, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluij, S. Vergano, N. Vo, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannen, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alder, M. Tedder, B. Sadikovic
مصطلحات موضوعية: DNA methylation, clinical diagnostic, episignature, neurodevelopmental syndrome, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/2434/991312Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967
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5دورية أكاديمية
المؤلفون: Sheppard, SE, Campbell, IM, Harr, MH, Gold, N, Li, D, Bjornsson, HT, Cohen, JS, Fahrner, JA, Fatemi, A, Harris, JR, Nowak, C, Stevens, CA, Grand, K, Au, M, Graham, JM, Sanchez-Lara, PA, Del Campo, M, Jones, MC, Abdul-Rahman, O, Alkuraya, FS, Bassetti, JA, Bergstrom, K, Bhoj, E, Dugan, S, Kaplan, JD, Derar, N, Gripp, KW, Hauser, N, Innes, AM, Keena, B, Kodra, N, Miller, R, Nelson, B, Nowaczyk, MJ, Rahbeeni, Z, Ben-Shachar, S, Shieh, JT, Slavotinek, A, Sobering, AK, Abbott, M-A, Allain, DC, Amlie-Wolf, L, Au, PYB, Bedoukian, E, Beek, G, Barry, J, Berg, J, Bernstein, JA, Cytrynbaum, C, Chung, BH-Y, Donoghue, S, Dorrani, N, Eaton, A, Flores-Daboub, JA, Dubbs, H, Felix, CA, Fong, C-T, Fung, JLF, Gangaram, B, Goldstein, A, Greenberg, R, Ha, TK, Hersh, J, Izumi, K, Kallish, S, Kravets, E, Kwok, P-Y, Jobling, RK, Johnson, AEK, Kushner, J, Lee, BH, Levin, B, Lindstrom, K, Manickam, K, Mardach, R, McCormick, E, McLeod, DR, Mentch, FD, Minks, K, Muraresku, C, Nelson, SF, Porazzi, P, Pichurin, PN, Powell-Hamilton, NN, Powis, Z, Ritter, A, Rogers, C, Rohena, L, Ronspies, C, Schroeder, A, Stark, Z, Starr, L, Stoler, J, Suwannarat, P, Velinov, M, Weksberg, R, Wilnai, Y, Zadeh, N, Zand, DJ, Falk, MJ, Hakonarson, H, Zackai, EH, Quintero-Rivera, F
العلاقة: Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Del Campo, M., Jones, M. C., Abdul-Rahman, O. ,. Quintero-Rivera, F. (2021). Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 185 (6), pp.1649-1665. https://doi.org/10.1002/ajmg.a.62124Test.; http://hdl.handle.net/11343/310982Test
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المؤلفون: Beck, DB, Petracovici, A, He, C, Moore, HW, Louie, RJ, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, RLP, Prijoles, EJ, Bend, R, Keren, B, Fahrner, JA
المصدر: Beck , DB , Petracovici , A , He , C , Moore , HW , Louie , RJ , Ansar , M , Douzgou , S , Sithambaram , S , Cottrell , T , Santos-Cortez , RLP , Prijoles , EJ , Bend , R , Keren , B & Fahrner , JA 2019 , Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency . . https://doi.org/10.1101/719047Test
الإتاحة: https://doi.org/10.1101/719047Test
https://research.manchester.ac.uk/en/publications/8f172d88-069e-4413-8f81-778109d4f829Test
http://europepmc.org/abstract/PPR/PPR87587Test -
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