المؤلفون: Rafehi, H, Green, C, Bozaoglu, K, Gillies, G, Delatycki, MB, Lockhart, PJ, Scheffer, IE, Bahlo, M

العلاقة: NHMRC/1044175; NHMRC/1006110; NHMRC/APP1032364; NHMRC/1104831; NHMRC/1098255; pii: 10.1038/s41431-022-01166-y; Rafehi, H., Green, C., Bozaoglu, K., Gillies, G., Delatycki, M. B., Lockhart, P. J., Scheffer, I. E. & Bahlo, M. (2022). Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. EUROPEAN JOURNAL OF HUMAN GENETICS, 31 (1), pp.122-124. https://doi.org/10.1038/s41431-022-01166-yTest.; http://hdl.handle.net/11343/318134Test

الإتاحة: https://doi.org/10.1038/s41431-022-01166-yTest
http://hdl.handle.net/11343/318134Test

المؤلفون: Brohus, M, Arsov, T, Wallace, DA, Jensen, HH, Nyegaard, M, Crotti, L, Adamski, M, Zhang, Y, Field, MA, Athanasopoulos, V, Baró, I, Ribeiro de Oliveira-Mendes, BB, Redon, R, Charpentier, F, Raju, H, DiSilvestre, D, Wei, J, Wang, R, Rafehi, H, Kaspi, A, Bahlo, M, Dick, IE, Chen, SRW, Cook, MC, Vinuesa, CG, Overgaard, MT, Schwartz, PJ.

المساهمون: Brohus, M, Arsov, T, Wallace, D, Jensen, H, Nyegaard, M, Crotti, L, Adamski, M, Zhang, Y, Field, M, Athanasopoulos, V, Baró, I, Ribeiro de Oliveira-Mendes, B, Redon, R, Charpentier, F, Raju, H, Disilvestre, D, Wei, J, Wang, R, Rafehi, H, Kaspi, A, Bahlo, M, Dick, I, Chen, S, Cook, M, Vinuesa, C, Overgaard, M, Schwartz, P

مصطلحات موضوعية: BSN, CALM2, Calmodulinopathy, Infanticide, Sudden unexpected death, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, MED/03 - GENETICA MEDICA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33200177; info:eu-repo/semantics/altIdentifier/wos/WOS:000637048400018; volume:23; issue:3; firstpage:441; lastpage:450; numberofpages:10; journal:EUROPACE; http://hdl.handle.net/10281/297351Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102908750

الإتاحة: https://doi.org/10.1093/europace/euaa272Test
http://hdl.handle.net/10281/297351Test

المؤلفون: Sim, C.B., Phipson, B., Ziemann, M., Rafehi, H., Mills, R.J., Watt, K.I., Abu-Bonsrah, K.D., Kalathur, R.K.R., Voges, H.K., Dinh, D.T., Ter Huurne, M., Vivien, C.J., Kaspi, A., Kaipananickal, H., Hidalgo, A., Delbridge, L.M.D., Robker, R.L., Gregorevic, P., Dos Remedios, C.G., Lal, S.

المصدر: http://dx.doi.org/10.1161/circulationaha.120.051921Test.

مصطلحات موضوعية: Human development, chromatin accessibility, maturation, progesterone, transcriptional regulation

وصف الملف: application/pdf

العلاقة: ARC; Circulation, 2021; 143(16):1614-1628; http://hdl.handle.net/2440/130809Test; Dinh, D.T. [0000-0002-6065-532X]; Robker, R.L. [0000-0002-1538-4604]

الإتاحة: https://doi.org/10.1161/circulationaha.120.051921Test
http://hdl.handle.net/2440/130809Test

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
http://hdl.handle.net/11567/1022007Test

المؤلفون: Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, Bennett, MF, Munro, JE, Ngo, KJ, Chen, L, Wallis, MJ, Butler, EG, Kumar, KR, Wu, KHC, Tomlinson, SE, Tisch, S, Malhotra, A, Lee-Archer, M, Dolzhenko, E, Eberle, MA, Roberts, LJ, Fogel, BL, Bruggemann, N, Lohmann, K, Delatycki, MB, Bahlo, M, Lockhart, PJ

العلاقة: pii: S0002-9297(22)00506-7; Rafehi, H., Read, J., Szmulewicz, D. J., Davies, K. C., Snell, P., Fearnley, L. G., Scott, L., Thomsen, M., Gillies, G., Pope, K., Bennett, M. F., Munro, J. E., Ngo, K. J., Chen, L., Wallis, M. J., Butler, E. G., Kumar, K. R., Wu, K. H. C., Tomlinson, S. E. ,. Lockhart, P. J. (2023). An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. AMERICAN JOURNAL OF HUMAN GENETICS, 110 (1), pp.105-119. https://doi.org/10.1016/j.ajhg.2022.11.015Test.; http://hdl.handle.net/11343/339717Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.11.015Test
http://hdl.handle.net/11343/339717Test

المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C

العلاقة: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9Test.; http://hdl.handle.net/11343/245207Test

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
http://hdl.handle.net/11343/245207Test

المؤلفون: Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, Garcia Barcina, M, Breen, DP, Chancellor, AM, Cremer, PD, Delatycki, MB, Fogel, BL, Hackett, A, Halmagyi, GM, Kapetanovic, S, Lang, A, Mossman, S, Mu, W, Patrikios, P, Perlman, SL, Rosemergy, I, Storey, E, Watson, SRD, Wilson, MA, Zee, DS, Valle, D, Amor, DJ, Bahlo, M, Lockhart, PJ

العلاقة: pii: S0002-9297(19)30203-4; Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Garcia Barcina, M., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S. ,. Lockhart, P. J. (2019). Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. AMERICAN JOURNAL OF HUMAN GENETICS, 105 (1), pp.151-165. https://doi.org/10.1016/j.ajhg.2019.05.016Test.; http://hdl.handle.net/11343/249828Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.05.016Test
http://hdl.handle.net/11343/249828Test

المؤلفون: Quaife-Ryan, GA, Sim, CB, Ziemann, M, Kaspi, A, Rafehi, H, Ramialison, M, El-Osta, A, Hudson, JE, Porrello, ER

العلاقة: pii: CIRCULATIONAHA.117.028252; Quaife-Ryan, G. A., Sim, C. B., Ziemann, M., Kaspi, A., Rafehi, H., Ramialison, M., El-Osta, A., Hudson, J. E. & Porrello, E. R. (2017). Multicellular Transcriptional Analysis of Mammalian Heart Regeneration. CIRCULATION, 136 (12), pp.1123-+. https://doi.org/10.1161/CIRCULATIONAHA.117.028252Test.; http://hdl.handle.net/11343/256669Test

الإتاحة: https://doi.org/10.1161/CIRCULATIONAHA.117.028252Test
http://hdl.handle.net/11343/256669Test

المؤلفون: Eratne, D, Schneider, A, Lynch, E, Martyn, M, Velakoulis, D, Fahey, M, Kwan, P, Leventer, R, Rafehi, H, Chong, B, Stark, Z, Lunke, S, Phelan, DG, O'Keefe, M, Siemering, K, West, K, Sexton, A, Jarmolowicz, A, Taylor, JA, Schultz, J, Purvis, R, Uebergang, E, Chalinor, H, Creighton, B, Gelfand, N, Saks, T, Prawer, Y, Smagarinsky, Y, Pan, T, Goranitis, I, Ademi, Z, Gaff, C, Huq, A, Walsh, M, James, PA, Krzesinski, EI, Wallis, M, Stutterd, CA, Bahlo, M, Delatycki, MB, Berkovic, SF

مصطلحات موضوعية: 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery, Adolescent, Adult, Aged, Australia, Child, Computational Biology, Exome, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Phenotype, Prospective Studies, Young Adult

وصف الملف: Print-Electronic; application/pdf

العلاقة: Journal of Neurological Sciences; Journal of Neurological Sciences, 2021, 420, pp. 1-8; http://hdl.handle.net/10453/154663Test

الإتاحة: http://hdl.handle.net/10453/154663Test

المؤلفون: Karimnia, N, Rafehi, H, Tuano, NK, Ziemann, M, K N, H, Okabe, J, El-Osta, A

العلاقة: pii: ncrna2040014; Karimnia, N., Rafehi, H., Tuano, N. K., Ziemann, M., K N, H., Okabe, J. & El-Osta, A. (2016). Current perspectives in Set7 mediated stem cell differentiation. Noncoding RNA, 2 (4), pp.E14-. https://doi.org/10.3390/ncrna2040014Test.; http://hdl.handle.net/11343/253679Test

الإتاحة: https://doi.org/10.3390/ncrna2040014Test
http://hdl.handle.net/11343/253679Test