المؤلفون: Trpchevska, N, Freidin, MB, Broer, L, Oosterloo, BC, Yao, SY, Zhou, YT, Vona, B, Bishop, C, Bizaki-Vallaskangas, A, Canlon, B, Castellana, F, Chasman, DI, Cherny, S, Christensen, K, Concas, MP, Correa, A, Elkon, R, Mengel-From, J, Gao, Y, Giersch, ABS, Girotto, G, Gudjonsson, A, Gudnason, V, Heard-Costa, NL, Hertzano, R, Hjelmborg, JVB, Hjerling-Leffler, J, Hoffman, HJ, Kaprio, J, Kettunen, J, Krebs, K, Kahler, AK, Lallemend, F, Launer, LJ, Lee, IM, Leonard, H, Li, CM, Lowenheim, H, Magnusson, PKE, van Meurs, J, Milani, L, Morton, CC, Makitie, A, Nalls, MA, Nardone, GG, Nygaard, M, Palviainen, T, Pratt, S, Quaranta, N, Ramo, J, Saarentaus, E, Sardone, R, Satizabal, CL, Schweinfurth, JM, Seshadri, S, Shiroma, E, Shulman, E, Simonsick, E, Spankovich, C, Tropitzsch, A, Lauschke, VM, Sullivan, PF, Goedegebure, A, Cederroth, CR, Williams, FM, Nagtegaal, AP

المصدر: American journal of human genetics. 109(6):1077-1091

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150182567

المؤلفون: Hedberg-Oldfors, C, Abramsson, A, Osborn, DPS, Danielsson, O, Fazlinezhad, A, Nilipour, Y, Hubbert, L, Nennesmo, I, Visuttijai, K, Bharj, J, Petropoulou, E, Shoreim, A, Vona, B, Ahangari, N, Lopez, MD, Doosti, M, Banote, RK, Maroofian, R, Edling, M, Taherpour, M, Zetterberg, H, Karimiani, EG, Oldfors, A, Jamshidi, Y

المصدر: Human molecular genetics. 28(11):1919-1929

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141423233

المؤلفون: Szczepek, AJ, Frejo, L, Vona, B, Trpchevska, N, Cederroth, CR, Caria, H, Lopez-Escamez, JA

المصدر: Ear and hearing. 40(2):219-226

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140393436

المؤلفون: Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schoneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortum F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenco CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R

المصدر: Brain, 4 April 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298053; https://eprints.ncl.ac.uk/fulltext.aspx?url=298053/0D025C43-2E4A-457E-8060-419EA8753223.pdf&pub_id=298053

الاتاحة: https://eprints.ncl.ac.uk/298053

المؤلفون: Mendia, C, Peineau, T, Zamani, M, Felgerolle, C, Yahiaoui, N, Christophersen, N, Papal, S, Maudoux, A, Maroofian, R, Patni, P, Nouaille, S, Bowl, MR, Delmaghani, S, Galehdari, H, Vona, B, Dulon, D, Vitry, S, El-Amraoui, A

المصدر: Molecular Therapy , 32 (3) pp. 800-8817. (2024)

مصطلحات موضوعية: clarin-2, gene therapy, progressive hearing loss

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10188737/1/1-s2.0-S1525001624000212-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10188737/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188737/1/1-s2.0-S1525001624000212-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10188737/

المؤلفون: Maroofian, R, Zamani, M, Kaiyrzhanov, R, Liebmann, L, Karimiani, EG, Vona, B, Huebner, AK, Calame, DG, Misra, VK, Sadeghian, S, Azizimalamiri, R, Mohammadi, MH, Zeighami, J, Heydaran, S, Toosi, MB, Akhondian, J, Babaei, M, Hashemi, N, Schnur, RE, Suri, M, Setzke, J, Wagner, M, Brunet, T, Grochowski, CM, Emrick, L, Chung, WK, Hellmich, UA, Schmidts, M, Lupski, JR, Galehdari, H, Severino, M, Houlden, H, Hübner, CA

المصدر: Genetics in Medicine , 26 (3) , Article 101034. (2024)

مصطلحات موضوعية: Bicarbonate transporters, Intracellular pH dynamics, Neurodevelopmental disorders, SLC4A10, Slit ventricles

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10188679/1/1-s2.0-S109836002301050X-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10188679/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188679/1/1-s2.0-S109836002301050X-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10188679/

المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Karimiani, EG, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Tayfun, GA, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Monajemi, GB, Mohammadi, P, Samie, S, Banu, SH, Pinto Basto, J, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Issa, AH, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf; https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip; https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf; Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; et al. Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; Efthymiou, S; Karimiani, EG; Hempel, M; Normand, EA; Rudnik-Schöneborn, S; Schatz, UA; Baggelaar, MP; Ilyas, M; Sultan, T; Alvi, JR; Ganieva, M; Fowler, B; Aanicai, R; Tayfun, GA; Al Saman, A; Alswaid, A; Amiri, N; Asilova, N; Shotelersuk, V; Yeetong, P; Azam, M; Babaei, M; Monajemi, GB; Mohammadi, P; Samie, S; Banu, SH; Pinto Basto, J; Kortüm, F; Bauer, M; Bauer, P; Beetz, C; Garshasbi, M; Issa, AH; Eyaid, W; Ahmed, H; Hashemi, N; Hassanpour, K; Herman, I; Ibrohimov, S; Abdul-Majeed, BA; Imdad, M; Isrofilov, M; Kaiyal, Q; Khan, S; Kirmse, B; Koster, J; Lourenço, CM; Mitani, T; Moldovan, O; Murphy, D; Najafi, M; Pehlivan, D; Rocha, ME; Salpietro, V; Schmidts, M; Shalata, A; Mahroum, M; Talbeya, JK; Taylor, RW; Vazquez, D; Vetro, A; Waterham, HR; Zaman, M; Schrader, TA; Chung, WK; Guerrini, R; Lupski, JR; Gleeson, J; Suri, M; Jamshidi, Y; Bhatia, KP; Vona, B; Schrader, M; Severino, M; Guille, M; Tate, EW; Varshney, GK; Houlden, H; Maroofian, R (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147 (4). pp. 1436-1456. ISSN 1460-2156 https://doi.org/10.1093/brain/awad380 SGUL Authors: Jamshidi, Yalda

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115881/
https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf
https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf
https://doi.org/10.1093/brain/awad380

المؤلفون: Uctepe, E, Vona, B, Esen, FN, Sonmez, FM, Smol, T, Tümer, S, Mancılar, H, Geylan Durgun, DE, Boute, O, Moghbeli, M, Ghayoor Karimiani, E, Hashemi, N, Bakhshoodeh, B, Kim, HG, Maroofian, R, Yesilyurt, A

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/115981/1/s41431-023-01461-2.pdf; https://openaccess.sgul.ac.uk/id/eprint/115981/6/41431_2023_1461_MOESM1_ESM.pdf; Uctepe, E; Vona, B; Esen, FN; Sonmez, FM; Smol, T; Tümer, S; Mancılar, H; Geylan Durgun, DE; Boute, O; Moghbeli, M; et al. Uctepe, E; Vona, B; Esen, FN; Sonmez, FM; Smol, T; Tümer, S; Mancılar, H; Geylan Durgun, DE; Boute, O; Moghbeli, M; Ghayoor Karimiani, E; Hashemi, N; Bakhshoodeh, B; Kim, HG; Maroofian, R; Yesilyurt, A (2024) Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly. Eur J Hum Genet, 32 (1). pp. 52-60. ISSN 1476-5438 https://doi.org/10.1038/s41431-023-01461-2 SGUL Authors: Karimiani, Ehsan Ghayoor

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115981/
https://openaccess.sgul.ac.uk/id/eprint/115981/1/s41431-023-01461-2.pdf
https://openaccess.sgul.ac.uk/id/eprint/115981/6/41431_2023_1461_MOESM1_ESM.pdf
https://doi.org/10.1038/s41431-023-01461-2

المؤلفون: Chelban, V, Aksnes, H, Maroofian, R, LaMonica, LC, Seabra, L, Siggervåg, A, Devic, P, Shamseldin, HE, Vandrovcova, J, Murphy, D, Richard, A-C, Quenez, O, Bonnevalle, A, Zanetti, MN, Kaiyrzhanov, R, Salpietro, V, Efthymiou, S, Schottlaender, LV, Morsy, H, Scardamaglia, A, Tariq, A, Pagnamenta, AT, Pennavaria, A, Krogstad, LS, Bekkelund, ÅK, Caiella, A, Glomnes, N, Brønstad, KM, Tury, S, Moreno De Luca, A, Boland-Auge, A, Olaso, R, Deleuze, J-F, Anheim, M, Cretin, B, Vona, B, Alajlan, F, Abdulwahab, F, Battini, J-L, İpek, R, Bauer, P, Zifarelli, G, Gungor, S, Kurul, SH, Lochmuller, H, Da'as, SI, Fakhro, KA, Gómez-Pascual, A, Botía, JA, Wood, NW, Horvath, R, Ernst, AM, Rothman, JE, McEntagart, M, Crow, YJ, Alkuraya, FS, Nicolas, G, SYNaPS Study Group, Arnesen, T, Houlden, H

وصف الملف: application/pdf; application/vnd.ms-excel; video/mp4; video/x-msvideo

Relation: https://openaccess.sgul.ac.uk/id/eprint/116732/1/s41467-024-46354-0.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/6/41467_2024_46354_MOESM1_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/11/41467_2024_46354_MOESM2_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/16/41467_2024_46354_MOESM3_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/25/41467_2024_46354_MOESM4_ESM.xlsx; https://openaccess.sgul.ac.uk/id/eprint/116732/26/41467_2024_46354_MOESM5_ESM.mp4; https://openaccess.sgul.ac.uk/id/eprint/116732/27/41467_2024_46354_MOESM6_ESM.avi; https://openaccess.sgul.ac.uk/id/eprint/116732/28/41467_2024_46354_MOESM7_ESM.pdf; https://openaccess.sgul.ac.uk/id/eprint/116732/33/41467_2024_46354_MOESM8_ESM.pdf; Chelban, V; Aksnes, H; Maroofian, R; LaMonica, LC; Seabra, L; Siggervåg, A; Devic, P; Shamseldin, HE; Vandrovcova, J; Murphy, D; et al. Chelban, V; Aksnes, H; Maroofian, R; LaMonica, LC; Seabra, L; Siggervåg, A; Devic, P; Shamseldin, HE; Vandrovcova, J; Murphy, D; Richard, A-C; Quenez, O; Bonnevalle, A; Zanetti, MN; Kaiyrzhanov, R; Salpietro, V; Efthymiou, S; Schottlaender, LV; Morsy, H; Scardamaglia, A; Tariq, A; Pagnamenta, AT; Pennavaria, A; Krogstad, LS; Bekkelund, ÅK; Caiella, A; Glomnes, N; Brønstad, KM; Tury, S; Moreno De Luca, A; Boland-Auge, A; Olaso, R; Deleuze, J-F; Anheim, M; Cretin, B; Vona, B; Alajlan, F; Abdulwahab, F; Battini, J-L; İpek, R; Bauer, P; Zifarelli, G; Gungor, S; Kurul, SH; Lochmuller, H; Da'as, SI; Fakhro, KA; Gómez-Pascual, A; Botía, JA; Wood, NW; Horvath, R; Ernst, AM; Rothman, JE; McEntagart, M; Crow, YJ; Alkuraya, FS; Nicolas, G; SYNaPS Study Group; Arnesen, T; Houlden, H (2024) Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun, 15 (1). p. 2269. ISSN 2041-1723 https://doi.org/10.1038/s41467-024-46354-0 SGUL Authors: McEntagart, Meriel

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116732/
https://openaccess.sgul.ac.uk/id/eprint/116732/1/s41467-024-46354-0.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/6/41467_2024_46354_MOESM1_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/11/41467_2024_46354_MOESM2_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/16/41467_2024_46354_MOESM3_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/25/41467_2024_46354_MOESM4_ESM.xlsx
https://openaccess.sgul.ac.uk/id/eprint/116732/26/41467_2024_46354_MOESM5_ESM.mp4
https://openaccess.sgul.ac.uk/id/eprint/116732/27/41467_2024_46354_MOESM6_ESM.avi
https://openaccess.sgul.ac.uk/id/eprint/116732/28/41467_2024_46354_MOESM7_ESM.pdf
https://openaccess.sgul.ac.uk/id/eprint/116732/33/41467_2024_46354_MOESM8_ESM.pdf

المؤلفون: Vona, B., Wollnik, B., Strenzke, N., Moser, T.

المصدر: Experimental and Molecular Medicine

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000F-6646-0; http://hdl.handle.net/21.11116/0000-000F-6648-E

الاتاحة: http://hdl.handle.net/21.11116/0000-000F-6646-0
http://hdl.handle.net/21.11116/0000-000F-6648-E

المؤلفون: Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Langman, CB, Lester, T, Lines, KE, Lord, SR, Lu, X, Mansour, S, Manzur, A, Maroofian, R, Marsden, B, Mason, J, McGowan, SJ, Mei, D, Mlcochova, H, Murakami, Y, Németh, AH, Okoli, S, Ormondroyd, E, Ousager, LB, Palace, J, Patel, SY, Pentony, MM, Pugh, C, Rad, A, Ramesh, A, Riva, SG, Roberts, I, Roy, N, Salminen, O, Schilling, KD, Scott, C, Sen, A, Smith, C, Stevenson, M, Thakker, RV, Twigg, SRF, Uhlig, HH, van Wijk, R, Vona, B, Wall, S, Wang, J, Watkins, H, Zak, J, Schuh, AH, Kini, U, Wilkie, AOM, Popitsch, N, Taylor, JC

المصدر: Genome Medicine , 15 (1) , Article 94. (2023)

مصطلحات موضوعية: Bioinformatics pipeline development, Clinical impact, Diagnostic yield, Genome sequencing, Non-coding, Pipeline optimisation, Rare diseases, Splice site variant, Structural variant

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf; https://discovery.ucl.ac.uk/id/eprint/10181812/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf
https://discovery.ucl.ac.uk/id/eprint/10181812/

المؤلفون: Chen, H., Monga, M., Fang, Q., Slitin, L., Neef, J., Chepurwar, S., Netto, R., Lezirovitz, K., Tabith Jr, A., Benseler, F., Brose, N., Kusch, K., Wichmann, C., Strenzke, N., Vona, B., Preobraschenski, J., Moser, T.

المصدر: Protein & Cell

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000E-5D8D-C; http://hdl.handle.net/21.11116/0000-000E-5D8F-A

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-5D8D-C
http://hdl.handle.net/21.11116/0000-000E-5D8F-A

المؤلفون: Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, SYNaPS Study Group, Aguennouz M, Di Rosa G, Arnesen T, Houlden H.

المساهمون: Chelban, V, Aksnes, H, Maroofian, R, Lamonica, Lc, Seabra, L, Siggervåg, A, Devic, P, Shamseldin, He, Vandrovcova, J, Murphy, D, Richard, Ac, Quenez, O, Bonnevalle, A, Zanetti, Mn, Kaiyrzhanov, R, Salpietro, V, Efthymiou, S, Schottlaender, Lv, Morsy, H, Scardamaglia, A, Tariq, A, Pagnamenta, At, Pennavaria, A, Krogstad, L, Bekkelund, Åk, Caiella, A, Glomnes, N, Brønstad, Km, Tury, S, Moreno De Luca, A, Boland-Auge, A, Olaso, R, Deleuze, Jf, Anheim, M, Cretin, B, Vona, B, Alajlan, F, Abdulwahab, F, Battini, Jl, İpek, R, Bauer, P, Zifarelli, G, Gungor, S, Kurul, Sh, Lochmuller, H, Da'As, Si, Fakhro, Ka, Gómez-Pascual, A, Botía, Ja, Wood, Nw, Horvath, R, Ernst, Am, Rothman, Je, Mcentagart, M, Crow, Yj, Alkuraya, F, Nicolas, G, SYNaPS Study, Group, Aguennouz, M, Di Rosa, G, Arnesen T, Houlden H.

وصف الملف: ELETTRONICO

Relation: firstpage:1; lastpage:20; numberofpages:20; journal:NATURE COMPUTATIONAL SCIENCE; https://hdl.handle.net/11570/3294390

الاتاحة: https://hdl.handle.net/11570/3294390

المؤلفون: Strenzke, N, Vona, B, Wollnik, B, Moser, T

المصدر: 26. Jahrestagung der Deutschen Gesellschaft für Audiologie; 20240306-20240308; Aalen; DOC150 /20240305/

مصطلحات الفهرس: ddc: 610, conferenceObject

URL: http://nbn-resolving.de/urn:nbn:de:0183-24dga1500
http://www.egms.de/en/meetings/dga2024/24dga150.shtml
Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006 Oct 20;127(2):277-89. DOI: 10.1016/j.cell.2006.08.040
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Vona B, Rad A, Reisinger E. The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment. Genes (Basel). 2020 Nov 26;11(12):1411. DOI: 10.3390/genes11121411
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999 Apr;21(4):363-9. DOI: 10.1038/7693

المؤلفون: Tábara, LC, Al-Salmi, F, Maroofian, R, Al-Futaisi, AM, Al-Murshedi, F, Kennedy, J, Day, JO, Courtin, T, Al-Khayat, A, Galedari, H, Mazaheri, N, Protasoni, M, Johnson, M, Leslie, JS, Salter, CG, Rawlins, LE, Fasham, J, Al-Maawali, A, Voutsina, N, Charles, P, Harrold, L, Keren, B, Kunji, ERS, Vona, B, Jelodar, G, Sedaghat, A, Shariati, G, Houlden, H, Crosby, AH, Prudent, J, Baple, EL

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/114580/1/awac123.pdf; Tábara, LC; Al-Salmi, F; Maroofian, R; Al-Futaisi, AM; Al-Murshedi, F; Kennedy, J; Day, JO; Courtin, T; Al-Khayat, A; Galedari, H; et al. Tábara, LC; Al-Salmi, F; Maroofian, R; Al-Futaisi, AM; Al-Murshedi, F; Kennedy, J; Day, JO; Courtin, T; Al-Khayat, A; Galedari, H; Mazaheri, N; Protasoni, M; Johnson, M; Leslie, JS; Salter, CG; Rawlins, LE; Fasham, J; Al-Maawali, A; Voutsina, N; Charles, P; Harrold, L; Keren, B; Kunji, ERS; Vona, B; Jelodar, G; Sedaghat, A; Shariati, G; Houlden, H; Crosby, AH; Prudent, J; Baple, EL (2022) TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145 (9). pp. 3095-3107. ISSN 1460-2156 https://doi.org/10.1093/brain/awac123 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114580/
https://openaccess.sgul.ac.uk/id/eprint/114580/1/awac123.pdf
https://doi.org/10.1093/brain/awac123

المؤلفون: Vona, B, Schwartzbaum, DA, Rodriguez, AA, Lewis, SS, Toosi, MB, Radhakrishnan, P, Bozan, N, Akın, R, Doosti, M, Manju, R, Duman, D, Sineni, CJ, Nampoothiri, S, Karimiani, EG, Houlden, H, Bademci, G, Tekin, M, Girisha, KM, Maroofian, R, Douzgou, S

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/114574/1/Acad%20Dermatol%20Venereol%20-%202022%20-%20Vona%20-%20Biallelic%20KITLG%20variants%20lead%20to%20a%20distinct%20spectrum%20of%20hypomelanosis%20and.pdf; https://openaccess.sgul.ac.uk/id/eprint/114574/6/jdv18207-sup-0001-appendixs1.docx; https://openaccess.sgul.ac.uk/id/eprint/114574/8/jdv18207-sup-0002-tables3.xlsx; Vona, B; Schwartzbaum, DA; Rodriguez, AA; Lewis, SS; Toosi, MB; Radhakrishnan, P; Bozan, N; Akın, R; Doosti, M; Manju, R; et al. Vona, B; Schwartzbaum, DA; Rodriguez, AA; Lewis, SS; Toosi, MB; Radhakrishnan, P; Bozan, N; Akın, R; Doosti, M; Manju, R; Duman, D; Sineni, CJ; Nampoothiri, S; Karimiani, EG; Houlden, H; Bademci, G; Tekin, M; Girisha, KM; Maroofian, R; Douzgou, S (2022) Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. J Eur Acad Dermatol Venereol, 36 (9). pp. 1606-1611. ISSN 1468-3083 https://doi.org/10.1111/jdv.18207 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114574/
https://openaccess.sgul.ac.uk/id/eprint/114574/1/Acad%20Dermatol%20Venereol%20-%202022%20-%20Vona%20-%20Biallelic%20KITLG%20variants%20lead%20to%20a%20distinct%20spectrum%20of%20hypomelanosis%20and.pdf
https://openaccess.sgul.ac.uk/id/eprint/114574/6/jdv18207-sup-0001-appendixs1.docx
https://openaccess.sgul.ac.uk/id/eprint/114574/8/jdv18207-sup-0002-tables3.xlsx
https://doi.org/10.1111/jdv.18207

المؤلفون: van der Knoop, MM, Maroofian, R, Fukata, Y, van Ierland, Y, Karimiani, EG, Lehesjoki, A-E, Muona, M, Paetau, A, Miyazaki, Y, Hirano, Y, Selim, L, de França, M, Fock, RA, Beetz, C, Ruivenkamp, CAL, Eaton, AJ, Morneau-Jacob, FD, Sagi-Dain, L, Shemer-Meiri, L, Peleg, A, Haddad-Halloun, J, Kamphuis, DJ, Peeters-Scholte, CMPCD, Hiz Kurul, S, Horvath, R, Lochmüller, H, Murphy, D, Waldmüller, S, Spranger, S, Overberg, D, Muir, AM, Rad, A, Vona, B, Abdulwahad, F, Maddirevula, S, Povolotskaya, IS, Voinova, VY, Gowda, VK, Srinivasan, VM, Alkuraya, FS, Mefford, HC, Alfadhel, M, Haack, TB, Striano, P, Severino, M, Fukata, M, Hilhorst-Hofstee, Y, Houlden, H

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/114573/1/awac116.pdf; https://openaccess.sgul.ac.uk/id/eprint/114573/6/awac116_supplementary_data.zip; van der Knoop, MM; Maroofian, R; Fukata, Y; van Ierland, Y; Karimiani, EG; Lehesjoki, A-E; Muona, M; Paetau, A; Miyazaki, Y; Hirano, Y; et al. van der Knoop, MM; Maroofian, R; Fukata, Y; van Ierland, Y; Karimiani, EG; Lehesjoki, A-E; Muona, M; Paetau, A; Miyazaki, Y; Hirano, Y; Selim, L; de França, M; Fock, RA; Beetz, C; Ruivenkamp, CAL; Eaton, AJ; Morneau-Jacob, FD; Sagi-Dain, L; Shemer-Meiri, L; Peleg, A; Haddad-Halloun, J; Kamphuis, DJ; Peeters-Scholte, CMPCD; Hiz Kurul, S; Horvath, R; Lochmüller, H; Murphy, D; Waldmüller, S; Spranger, S; Overberg, D; Muir, AM; Rad, A; Vona, B; Abdulwahad, F; Maddirevula, S; Povolotskaya, IS; Voinova, VY; Gowda, VK; Srinivasan, VM; Alkuraya, FS; Mefford, HC; Alfadhel, M; Haack, TB; Striano, P; Severino, M; Fukata, M; Hilhorst-Hofstee, Y; Houlden, H (2022) Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain, 145 (7). pp. 2301-2312. ISSN 1460-2156 https://doi.org/10.1093/brain/awac116 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114573/
https://openaccess.sgul.ac.uk/id/eprint/114573/1/awac116.pdf
https://openaccess.sgul.ac.uk/id/eprint/114573/6/awac116_supplementary_data.zip
https://doi.org/10.1093/brain/awac116

المؤلفون: Bahena, P, Daftarian, N, Maroofian, R, Linares, P, Villalobos, D, Mirrahimi, M, Rad, A, Doll, J, Hofrichter, MAH, Koparir, A, Röder, T, Han, S, Sabbaghi, H, Ahmadieh, H, Behboudi, H, Villanueva-Mendoza, C, Cortés-Gonzalez, V, Zamora-Ortiz, R, Kohl, S, Kuehlewein, L, Darvish, H, Alehabib, E, Arenas-Sordo, MDLL, Suri, F, Vona, B, Haaf, T

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/113394/1/Bahena2021_Article_UnravelingTheGeneticComplexiti.pdf; https://openaccess.sgul.ac.uk/id/eprint/113394/6/439_2021_2303_MOESM1_ESM.pdf; Bahena, P; Daftarian, N; Maroofian, R; Linares, P; Villalobos, D; Mirrahimi, M; Rad, A; Doll, J; Hofrichter, MAH; Koparir, A; et al. Bahena, P; Daftarian, N; Maroofian, R; Linares, P; Villalobos, D; Mirrahimi, M; Rad, A; Doll, J; Hofrichter, MAH; Koparir, A; Röder, T; Han, S; Sabbaghi, H; Ahmadieh, H; Behboudi, H; Villanueva-Mendoza, C; Cortés-Gonzalez, V; Zamora-Ortiz, R; Kohl, S; Kuehlewein, L; Darvish, H; Alehabib, E; Arenas-Sordo, MDLL; Suri, F; Vona, B; Haaf, T (2022) Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Hum Genet, 141 (3-4). pp. 785-803. ISSN 1432-1203 https://doi.org/10.1007/s00439-021-02303-1 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113394/
https://openaccess.sgul.ac.uk/id/eprint/113394/1/Bahena2021_Article_UnravelingTheGeneticComplexiti.pdf
https://openaccess.sgul.ac.uk/id/eprint/113394/6/439_2021_2303_MOESM1_ESM.pdf
https://doi.org/10.1007/s00439-021-02303-1

المؤلفون: Wolf, B., Kusch, K., Hunniford, V., Vona, B., Kuhler, R., Keppeler, D., Strenzke, N., Moser, T.

المصدر: Embo Molecular Medicine

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/670759; http://hdl.handle.net/21.11116/0000-000C-3E13-A; http://hdl.handle.net/21.11116/0000-000C-3E15-8

الاتاحة: http://hdl.handle.net/21.11116/0000-000C-3E13-A
http://hdl.handle.net/21.11116/0000-000C-3E15-8

المؤلفون: Bögershausen, N., Krawczyk, H., Jamra, R., Lin, S., Yigit, G., Hüning, I., Polo, A., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B., Busche, A., Biskup, S., Mendes, M., Smith, D., Salomons, G., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J., Li, Y., Zenker, M., Varshney, G., Hillen, H., Kratz, C., Wollnik, B.

المصدر: Human Mutations

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000B-2BDE-C; http://hdl.handle.net/21.11116/0000-000B-2BE0-8

الاتاحة: http://hdl.handle.net/21.11116/0000-000B-2BDE-C
http://hdl.handle.net/21.11116/0000-000B-2BE0-8