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1دورية أكاديمية
المؤلفون: Paul, Maimuna S, Michener, Sydney L, Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M, Rosenfeld, Jill A, Lerma, Vanesa C, Tran, Alyssa, Longley, Megan A, Lewis, Richard A, Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Mester, Jessica L, Guillen Sacoto, Maria J, Person, Richard, McDonnell, Pamela P, Cohen, Stacey R, Lusk, Laina, Cohen, Ana SA, Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran B, Karimiani, Ehsan G, Maroofian, Reza, Schaefer, Gerald B, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Ashley, EA, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Chang, TCP, Chanprasert, S, Undiagnosed Diseases Network, .
المصدر: American Journal of Human Genetics , 111 (1) pp. 96-118. (2024)
مصطلحات موضوعية: neurodevelopmental disorder, synaptic protein, active zone protein, Mendelian phenotypes, fruit flies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188776Test/
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2دورية أكاديمية
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
العلاقة: 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.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114574/6/jdv18207-sup-0001-appendixs1.docxTest; https://openaccess.sgul.ac.uk/id/eprint/114574/8/jdv18207-sup-0002-tables3.xlsxTest; 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.18207Test SGUL Authors: Maroofian, Reza
الإتاحة: https://doi.org/10.1111/jdv.18207Test
https://openaccess.sgul.ac.uk/id/eprint/114574Test/
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.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114574/6/jdv18207-sup-0001-appendixs1.docxTest
https://openaccess.sgul.ac.uk/id/eprint/114574/8/jdv18207-sup-0002-tables3.xlsxTest -
3دورية أكاديمية
المؤلفون: Ozturk, A.K., Nahed, B.V., Bydon, M., Bilguvar, K., Goksu, E., Bademci, G., Gunel, M.
المساهمون: Ozturk, A.K., Nahed, B.V., Bydon, M., Bilguvar, K., Goksu, E., Bademci, G., Gunel, M., Yeditepe Üniversitesi
العلاقة: Stroke; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; PubMed ID: 16497978; 1021; 1027; 37; https://hdl.handle.net/20.500.11831/761Test
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4دورية أكاديمية
المؤلفون: Niggl, E., Bouman, A., Briere, L.C., Hoogenboezem, R.M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E.D.R.O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P.J., Bertrand, M., Blesson, A.E., Clayton-Smith, J., Ellingford, J.M., Gillentine, M.A., Goodloe, D.H., Haack, T.B., Jain, M., Krantz, I., Luu, S.M., McPheron, M., Muss, C.L., Raible, S.E., Robin, N.H., Spiller, M., Starling, S., Sweetser, D.A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y., van Esbroeck, A.C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, M.T., Adams, D.R., Alvarez, R.L., Alvey, J., Allworth, A., Andrews, A., Ashley, E.A., Afzali, B., Bacino, C.A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A.H., Behrens, E., Bejerano, G., Bellen, H.J., Bennet, J., Bernstein, J.A., Berry, G.T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E.A., Burrage, L.C., Butte, M.J., Byers, P., Byrd, W.E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T.C., Chanprasert, S., Chao, H.-T., Chinn, I., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Coggins, M., Cole, F.S., Colley, H.A., Cope, H., Corona, R., Craigen, W.J., Crouse, A.B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J.G., Delgado, M., Dell'Angelica, E.C., Dipple, K., Doherty, D., Dorrani, N., Doss, A.L., Douine, E.D., Earl, D., Eckstein, D.J., Emrick, L.T., Eng, C.M., Falk, M., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Fu, J., Gahl, W.A., Glass, I., Goddard, P.C., Godfrey, R.A., Grajewski, A., Halley, M.C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F.M., Holm, I.A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G.P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S.N., Kohane, I.S., Kohler, J.N., Korrick, S., Krakow, D., Krasnewich, D.M., Kravets, E., Lalani, S.R., Lam, B., Lam, C., Lanpher, B.C., Lanza, I.R., LeBlanc, K., Lee, B.H., Levitt, R., Lewis, R.A., Liu, P., Liu, X.Z., Longo, N., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Maghiro, A., Mahoney, R., Malicdan, M.C., Mamounas, L.A., Manolio, T.A., Mao, R., Marom, R., Marth, G., Martin, B.A., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A.T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J.J., Nakano-Okuno, M., Nelson, S.F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J.P., Pace, L., Pak, S., Pallais, J.C., Papp, J.C., Parker, N.H., Petcharet, L., Phillips, J.A., Posey, J.E., Potocki, L., Swerdzewski, B.N., Quinlan, A., Rao, D.A., Raper, A., Raskind, W., Renteria, G., Reuter, C., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sacco, R., Sampson, J.B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D.A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E., Sinsheimer, J., Sisco, K., Smith, E., Smith, K., Solnica-Krezel, L., Solomon, B., Spillmann, R., Stergachis, A., Stoler, J., Sullivan, K., Sullivan, J., Sutton, S., Sybert, V., Tabor, H.K., Tan, Q.K.-G., Tan, A.L., Tarakad, A., Tekin, M., Telischi, F., Thorson, W., Tifft, C., Toro, C., Tran, A.A., Ungar, R.A., Urv, T.K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T.P., Wahl, C.E., Walker, M., Walley, N.M., Wambach, J., Wan, J., Wang, L.-K., Wangler, M.F., Ward, P.A., Wegner, D., Weisz, M., Wener, M., Wenger, T., Westerfield, M., Wheeler, M.T., Whitlock, J., Wolfe, L.A., Yamamoto, S., Zhang, Z., Zuchner, S.
العلاقة: Niggl, E. orcid.org/0000-0002-5654-8425 , Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297
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5دورية أكاديمية
المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen
مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology
العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test
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6دورية أكاديمية
المؤلفون: Maroofian, R, Girisha, K M, Tekin, M, Akın, Ramazan, Lewis, S S, Toosi, M B, Rodriguez, A A, Doosti, M, Schwartzbaum, D A, Vona, B, Manju, R, Duman, D, Radhakrishnan, P, Sineni, C J, Nampoothiri, S, Karimiani, E G, Douzgou, S, Bozan, N, Houlden, H, Bademci, G
العلاقة: 6c51ccc8-728c-4432-8908-97f5cb5b0250; https://avesis.yyu.edu.tr/publication/details/6c51ccc8-728c-4432-8908-97f5cb5b0250/oaiTest
الإتاحة: https://doi.org/10.1111/jdv.18207Test
https://avesis.yyu.edu.tr/publication/details/6c51ccc8-728c-4432-8908-97f5cb5b0250/oaiTest -
7دورية أكاديمية
المؤلفون: Loclar, I., Sennaroglu, G., Tokgoz-Yilmaz, S., Guo, S., Olgun, Y., Mahdieh, N., Bonyadi, M., Bozan, N., Ayral, A., Özkınay, Ferda, Yildirim-Baylan, M., Blanton, S. H., Bademci, G., Cengiz, F. B., Foster, J., II, Duman, D., Sennaroglu, L., Diaz-Horta, O., Atik, T., Kirazli, T., Tekin, M., Olgun, L., Alper, H., Menendez, I.
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Scientific Reports; https://hdl.handle.net/11454/52443Test; https://doi.org/10.1038/srep31622Test
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8دورية أكاديمية
المؤلفون: Bademci, G., Cengiz, F. B., Foster, J., II, Duman, D., Sennaroglu, L., Diaz-Horta, O., Atik, T., Kirazli, T., Olgun, L., Alper, H., Menendez, I., Loclar, I., Sennaroglu, G., Tokgoz-Yilmaz, S., Guo, S., Olgun, Y., Mahdieh, N., Bonyadi, M., Bozan, N., Ayral, A., Özkınay, Ferda, Yildirim-Baylan, M., Blanton, S. H., Tekin, M.
المساهمون: Ege Üniversitesi
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Scientific Reports; https://doi.org/10.1038/srep31622Test; https://hdl.handle.net/11454/52443Test
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9دورية أكاديمية
المؤلفون: Bademci, G., Foster, II, Mahdieh, N., Bonyadi, M., Duman, D., Cengiz, F.B., Menendez, I., Diaz-Horta, O., Shirkavand, A., Zeinali, S., Subasioglu, A., Tokgoz-Yilmaz, S., Huesca-Hernandez, F., De La Luz Arenas-Sordo, M., Dominguez-Aburto, J., Hernandez-Zamora, E., Montenegro, P., Paredes, R., Moreta, G., Vinueza, R., Villegas, F., Mendoza-Benitez, S., Guo, S., Bozan, N., Tos, T., Incesulu, A., Sennaroglu, G., Blanton, S.H., Ozturkmen-Akay, H., Yildirim-Baylan, M., Tekin, M.
مصطلحات موضوعية: WV Otolaryngology, QZ Pathology
وصف الملف: text
العلاقة: http://eprints.iums.ac.ir/3805/1/Comprehensive-analysis-via-exome-sequencing-uncovers-genetic-etiology-in-autosomal-recessive-nonsyndromic-deafness-in-a-large-multiethnic-cohort2016Genetics-in-Medicine.pdfTest; Bademci, G. and Foster, II and Mahdieh, N. and Bonyadi, M. and Duman, D. and Cengiz, F.B. and Menendez, I. and Diaz-Horta, O. and Shirkavand, A. and Zeinali, S. and Subasioglu, A. and Tokgoz-Yilmaz, S. and Huesca-Hernandez, F. and De La Luz Arenas-Sordo, M. and Dominguez-Aburto, J. and Hernandez-Zamora, E. and Montenegro, P. and Paredes, R. and Moreta, G. and Vinueza, R. and Villegas, F. and Mendoza-Benitez, S. and Guo, S. and Bozan, N. and Tos, T. and Incesulu, A. and Sennaroglu, G. and Blanton, S.H. and Ozturkmen-Akay, H. and Yildirim-Baylan, M. and Tekin, M. (2016) Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genetics in Medicine, 18 (4). pp. 364-371.
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10دورية أكاديمية
المؤلفون: Atik T., Koparir A., Bademci G., Foster J., II, Altunoglu U., Mutlu G.Y., Bowdin S., Elcioglu N., Tayfun G.A., Atik S.S., Ozen M., Özkınay F., Alanay Y., Kayserili H., Thiel S., Tekin M.
مصطلحات موضوعية: Complement, 3MC syndrome, Lectin pathway, MASP-1, MASP-3
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Orphanet Journal of Rare Diseases; https://hdl.handle.net/11454/16847Test; https://doi.org/10.1186/s13023-015-0345-3Test; 10
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