المؤلفون: Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, JJ, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, MR, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, PR, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, DG, Feret, D, Fewings, E, Fitzgerald, RC, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, MJL, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, GN, Schröck, E, Silva, I, Silveira, C, Soto, JL, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, MI, Woodward, ER, Tischkowitz, M, Hoogerbrugge, N, Oliveira, C

المصدر: The Lancet. Oncology. 24(1):91-106

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:236436516

المؤلفون: Moller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppala T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL, Cavestro GM, Moslein G, Hovig E, Dominguez-Valentin M

المصدر: Hereditary Cancer in Clinical Practice, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298723; https://eprints.ncl.ac.uk/fulltext.aspx?url=298723/F3E5B2A2-3E8B-44CB-9EF8-8A2B8AC4F3A4.pdf&pub_id=298723

الاتاحة: https://eprints.ncl.ac.uk/298723

المؤلفون: Dueñas, Nuria, Navarro, Matilde, Sanjuán, Xavier, Ruiz, Núria, Iglesias, Silvia, Matias-Guiu, Xavier, Guardiola, Jordi, Kreisler, Esther, Biondo, Sebastiano, González, Sara, Legido, Raquel, Blanco, Ana, Navarro, Silvia, Asiain, Leyre, Santos, Cristina, Capellá, G. (Gabriel), Pineda, Marta, Brunet, Joan

مصطلحات موضوعية: Colorectal cancer, Effectiveness, Lynch syndrome, Programme evaluation, Screening programme

Relation: Versió postprint del document publicat a: https://doi.org/10.1016/j.canep.2022.102291; Cancer Epidemiology, 2023, vol. 82; https://doi.org/10.1016/j.canep.2022.102291; https://repositori.udl.cat/handle/10459.1/465938

الاتاحة: https://doi.org/10.1016/j.canep.2022.102291
https://repositori.udl.cat/handle/10459.1/465938

المؤلفون: Spier, I, Yin, X, Richardson, M, Pineda, M, Laner, A, Ritter, D, Boyle, J, Mur, P, Hansen, TVO, Shi, X, Mahmood, K, Plazzer, J-P, Ognedal, E, Nordling, M, Farrington, SM, Yamamoto, G, Baert-Desurmont, S, Martins, A, Borras, E, Tops, C, Webb, E, Beshay, V, Genuardi, M, Pesaran, T, Capella, G, Tavtigian, S, Latchford, A, Frayling, IM, Plon, SE, Greenblatt, M, Macrae, FA, Aretz, S

Relation: pii: S1098-3600(23)01008-0; Spier, I., Yin, X., Richardson, M., Pineda, M., Laner, A., Ritter, D., Boyle, J., Mur, P., Hansen, T. V. O., Shi, X., Mahmood, K., Plazzer, J. -P., Ognedal, E., Nordling, M., Farrington, S. M., Yamamoto, G., Baert-Desurmont, S., Martins, A., Borras, E. ,. Aretz, S. (2024). Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel. GENETICS IN MEDICINE, 26 (2), https://doi.org/10.1016/j.gim.2023.100992.; http://hdl.handle.net/11343/339750

الاتاحة: http://hdl.handle.net/11343/339750

المؤلفون: Capellà, G., Lluís, F.

المصدر: Revista de la Reial Acadèmia de Medicina de Catalunya; 1998: Vol.: 13 Núm.: 2; p. 84-88

وصف الملف: text/html; application/pdf

Relation: https://www.raco.cat/index.php/RevistaRAMC/article/view/71654/81890; https://www.raco.cat/index.php/RevistaRAMC/article/view/71654/92119

URL الوصول: https://www.raco.cat/index.php/RevistaRAMC/article/view/71654

المؤلفون: Soares de Lima, Y, Arnau-Collell, C, Munoz, J, Herrera-Pariente, C, Moreira, L, Ocana, T, Diaz-Gay, M, Franch-Exposito, S, Cuatrecasas, M, Carballal, S, Lopez-Novo, A, Moreno, L, Fernandez, G, Diaz de Bustamante, A, Peters, S, Sommer, AK, Spier, I, te Paske, IBAW, van Herwaarden, YJ, Castells, A, Bujanda, L, Capella, G, Steinke-Lange, V, Mahmood, K, Joo, JE, Arnold, J, Parry, S, Macrae, FA, Winship, IM, Rosty, C, Cubiella, J, Rodriguez-Alcalde, D, Holinski-Feder, E, de Voer, R, Buchanan, DD, Aretz, S, Ruiz-Ponte, C, Valle, L, Balaguer, F, Bonjoch, L, Castellvi-Bel, S

Relation: NHMRC/1194896; pii: jmg-2022-108684; Soares de Lima, Y., Arnau-Collell, C., Munoz, J., Herrera-Pariente, C., Moreira, L., Ocana, T., Diaz-Gay, M., Franch-Exposito, S., Cuatrecasas, M., Carballal, S., Lopez-Novo, A., Moreno, L., Fernandez, G., Diaz de Bustamante, A., Peters, S., Sommer, A. K., Spier, I., te Paske, I. B. A. W., van Herwaarden, Y. J. ,. Castellvi-Bel, S. (2023). Germline mutations in WNK2 could be associated with serrated polyposis syndrome. JOURNAL OF MEDICAL GENETICS, 60 (6), pp.557-567. https://doi.org/10.1136/jmg-2022-108684.; http://hdl.handle.net/11343/333480

الاتاحة: http://hdl.handle.net/11343/333480

المؤلفون: Dominguez Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capellá, G. (Gabriel), Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Lindor, Noralane M., Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Ko Win, Aung, Haile, Robert W., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Buchanan, Daniel D, Thibodeau, Steven N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Redler, Silke, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Büttner, Reinhard, Weitz, Jürgen, Pineda Riu, Marta, Dueñas, Nuria, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Tjandra, Douglas, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma J., Mints, Miriam, Goldberg, Yael, Ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Balaguer Prunés, Francesc, Pavicic, Walter Hernán, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Möslein, Gabriela, Møller, Pål, Evans, D. Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, López-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana, Thomas, Huw

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Mortalitat, Càncer colorectal, Colonoscòpia, Diagnòstic, Mortality, Colorectal cancer, Colonoscopy, Diagnosis

وصف الملف: 12 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1016/j.eclinm.2023.101909; eClinicalMedicine, 2023, vol. 58; https://doi.org/10.1016/j.eclinm.2023.101909; http://hdl.handle.net/2445/207822; 738701

الاتاحة: http://hdl.handle.net/2445/207822

المؤلفون: Canet Hermida, Júlia, Marín, Fátima, Dorca Duch, Eduard, Dueñas, Nuria, Costas, Laia, Salinas Masdeu, Mònica, Velasco, Àngela, Peremiquel Trillas, Paula, Paytubi, Sonia, Ponce, Júlia, Fernández Gonzalez, Sergi, Martínez Delgado, José Manuel, Cárdenas, Laura, Taltavull, Anna, Alemany i Vilches, Laia, Meléndez, Cristina, Oliveras, Glòria, Vidal, August, Capellá, G. (Gabriel), López Bonet, Eugeni, Brunet, Joan, Matias-Guiu, Xavier, Pineda Riu, Marta

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Càncer colorectal, Càncer d'endometri, Mutació (Biologia), Colorectal cancer, Endometrial cancer, Mutation (Biology)

وصف الملف: 51 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1016/j.modpat.2023.100158; Modern Pathology, 2023, vol. 36, num.7; https://doi.org/10.1016/j.modpat.2023.100158; http://hdl.handle.net/2445/214411; 738697

الاتاحة: http://hdl.handle.net/2445/214411

المؤلفون: Moller P, Seppala T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, Bernstein I, Engel C, Aretz S, Nielsen M, Capella G, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer J-P, Sijmons R, Laghi L, Valle AD, Heinimann K, Half E, Lopez-Koestner F, Alvarez-Valenzuela K, Scott RJ, Katz L, Laish I, Vainer E, Vaccaro CA, Carraro DM, Gluck N, Abu-Freha N, Stakelum A, Kennelly R, Winter D, Rossi BM, Greenblatt M, Bohorquez M, Sheth H, Tibiletti MG, Lino-Silva LS, Horisberger K, Portenkirchner C, Nascimento I, Rossi NT, da Silva LA, Thomas H, Zarand A, Mecklin J-P, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Peltomaki P, Therkildsen C, Lindberg LJ, Thorlacius-Ussing O, von Knebel Doeberitz M, Loeffler M, Rahner N, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Huneburg R, de Vargas AF, Latchford A, Gerdes A-M, Backman A-S, Guillen-Ponce C, Snyder C, Lautrup CK, Amor D, Palmero E, Stoffel E, Duijkers F, Hall MJ, Hampel H, Williams H, Okkels H, Lubinski J, Reece J, Ngeow J, Guillem JG, Arnold J, Wadt K, Monahan K, Senter L, Rasmussen LJ, van Hest LP, Ricciardiello L, Kohonen-Corish MRJ, Ligtenberg MJL, Southey M, Aronson M, Zahary MN, Samadder NJ, Poplawski N, Hoogerbrugge N, Morrison PJ, James P, Lee G, Chen-Shtoyerman R, Ankathil R, Pai R, Ward R, Parry S, Debniak T, John T, van Overeem Hansen T, Caldes T, Yamaguchi T, Barca-Tierno V, Garre P, Cavestro GM, Weitz J, Redler S, Buttner R, Heuveline V, Hopper JL, Win AK, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, ten Broeke SW, Hovig E, Nakken S, Pineda M, Duenas N, Brunet J, Green K, Lalloo F, Newton K, Crosbie EJ, Mints M, Tjandra D, Neffa F, Esperon P, Kariv R, Rosner G, Pavicic WH, Kalfayan P, Torrezan GT, Bassaneze T, Martin C, Moslein G, Ahadova A, Kloor M, Sampson JR, Jenkins MA

المصدر: Hereditary Cancer in Clinical Practice, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/287216; https://eprints.ncl.ac.uk/fulltext.aspx?url=287216/C4C6875F-2796-405B-93DE-EC574AB5C3C7.pdf&pub_id=287216

الاتاحة: https://eprints.ncl.ac.uk/287216

المؤلفون: Møller, P., Seppälä, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., Winship, I., Plazzer, J. -P., Sijmons, R., Laghi, L., Valle, A. D., Heinimann, K., Half, E., Lopez-Koestner, F., Alvarez-Valenzuela, K., Scott, R. J., Katz, L., Laish, I., Vainer, E., Vaccaro, C. A., Carraro, D. M., Gluck, N., Abu-Freha, N., Stakelum, A., Kennelly, R., Winter, D., Rossi, B. M., Greenblatt, M., Bohorquez, M., Sheth, H., Tibiletti, M. G., Lino-Silva, L. S., Horisberger, K., Portenkirchner, C., Nascimento, I., Rossi, N.T., Apolinário da Silva, L., Thomas, H., Zaránd, A., Mecklin, J. -P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomäki, P., Therkildsen, C., Lindberg, L. J., Thorlacius-Ussing, O., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Hüneburg, R., Falcon de Vargas, A., Latchford, A., Gerdes, A. -M., Backman, A. -S., Guillén-Ponce, C., Snyder, C., Lautrup, C. K., Amor, D., Palmero, E., Stoffel, E., Duijkers, F., Hall, M. J., Hampel, H., Williams, H., Okkels, H., Lubiński, J., Reece, J., Ngeow, J., Guillem, J. G., Arnold, J., Wadt, K., Monahan, K., Senter, L., Rasmussen, L. J., van Hest, L. P., Ricciardiello, L., Kohonen-Corish, Maija R. (R17110), Ligtenberg, M. J. L., Southey, M., Aronson, M., Zahary, M. N., Samadder, N. J., Poplawski, N., Hoogerbrugge, N., Morrison, P. J., James, P., Lee, G., Chen-Shtoyerman, R., Ankathil, R., Pai, R., Ward, R., Parry, S., Dębniak, T., John, T., van Overeem Hansen, T., Caldés, T., Yamaguchi, T., Barca-Tierno, V., Garre, P., Cavestro, G. M., Weitz, J., Redler, S., Büttner, R., Heuveline, V., Hopper, J. L., Win, A. K., Lindor, N., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J., Buchanan, D. D., Thibodeau, S. N., Broeke, S. W., Hovig, E., Nakken, S., Pineda, M., Dueñas, N., Brunet, J., Green, K., Lalloo, F., Newton, K., Crosbie, E. J., Mints, M., Tjandra, D., Neffa, F., Esperon, P., Kariv, R., Rosner, G., Pavicic, W. H., Kalfayan, P., Torrezan, G. T., Bassaneze, T., Martin, C., Moslein, G., Ahadova, A., Kloor, M., Sampson, J. R., Jenkins, M. A., The European Hereditary Tumour Group (EHTG), International Mismatch Repair Consortium (IMRC)

مصطلحات موضوعية: XXXXXX - Unknown

وصف الملف: print

Relation: Hereditary Cancer in Clinical Practice--1731-2302--1897-4287 Vol. 20 Issue. 1 No. 36

الاتاحة: https://doi.org/10.1186/s13053-022-00241-1
https://hdl.handle.net/1959.7/uws:73871

المؤلفون: Moller, P, Seppala, T, Dowty, JG, Haupt, S, Dominguez-Valentin, M, Sunde, L, Bernstein, I, Engel, C, Aretz, S, Nielsen, M, Capella, G, Evans, DG, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J-P, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Half, E, Lopez-Koestner, F, Alvarez-Valenzuela, K, Scott, RJ, Katz, L, Laish, I, Vainer, E, Vaccaro, CA, Carraro, DM, Gluck, N, Abu-Freha, N, Stakelum, A, Kennelly, R, Winter, D, Rossi, BM, Greenblatt, M, Bohorquez, M, Sheth, H, Tibiletti, MG, Lino-Silva, LS, Horisberger, K, Portenkirchner, C, Nascimento, I, Rossi, NT, da Silva, LA, Thomas, H, Zarand, A, Mecklin, J-P, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Therkildsen, C, Lindberg, LJ, Thorlacius-Ussing, O, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hueneburg, R, de Vargas, AF, Latchford, A, Gerdes, A-M, Backman, A-S, Guillen-Ponce, C, Snyder, C, Lautrup, CK, Amor, D, Palmero, E, Stoffel, E, Duijkers, F, Hall, MJ, Hampel, H, Williams, H, Okkels, H, Lubinski, J, Reece, J, Ngeow, J, Guillem, JG, Arnold, J, Wadt, K, Monahan, K, Senter, L, Rasmussen, LJ, van Hest, LP, Ricciardiello, L, Kohonen-Corish, MRJ, Ligtenberg, MJL, Southey, M, Aronson, M, Zahary, MN, Samadder, NJ, Poplawski, N, Hoogerbrugge, N, Morrison, PJ, James, P, Lee, G, Chen-Shtoyerman, R, Ankathil, R, Pai, R, Ward, R, Parry, S, Debniak, T, John, T, van Overeem Hansen, T, Caldes, T, Yamaguchi, T, Barca-Tierno, V, Garre, P, Cavestro, GM, Weitz, J, Redler, S, Buettner, R, Heuveline, V, Hopper, JL, Win, AK, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, J, Buchanan, DD, Thibodeau, SN, ten Broeke, SW, Hovig, E, Nakken, S, Pineda, M, Duenas, N, Brunet, J, Green, K, Lalloo, F, Newton, K, Crosbie, EJ, Mints, M, Tjandra, D, Neffa, F, Esperon, P, Kariv, R, Rosner, G, Pavicic, WH, Kalfayan, P, Torrezan, GT, Bassaneze, T, Martin, C, Moslein, G, Ahadova, A, Kloor, M, Sampson, JR, Jenkins, MA

Relation: NHMRC/1194392; pii: 10.1186/s13053-022-00241-1; Moller, P., Seppala, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F. ,. Jenkins, M. A. (2022). Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. HEREDITARY CANCER IN CLINICAL PRACTICE, 20 (1), https://doi.org/10.1186/s13053-022-00241-1.; http://hdl.handle.net/11343/318368

الاتاحة: http://hdl.handle.net/11343/318368

المؤلفون: Dueñas, Nuria, Navarro, Matilde, Sanjuán, Xavier, Ruiz, Núria, Iglesias, Silvia, Matias-Guiu, Xavier, Guardiola, Jordi, Kreisler, Esther, Biondo, Sebastiano, González, Sara, Legido, Raquel, Blanco, Ana, Navarro, Silvia, Asiain, Leyre, Santos, Cristina, Capellá, G. (Gabriel), Pineda, Marta, Brunet, Joan

المصدر: Articles publicats en revistes (Patologia i Terapèutica Experimental)

مصطلحات موضوعية: Càncer colorectal, Cribratge, Immunohistoquímica, Colorectal cancer, Medical screening, Immunohistochemistry

وصف الملف: 26 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1016/j.canep.2022.102291; Cancer Epidemiology, 2022, vol. 82, p. 102291; https://doi.org/10.1016/j.canep.2022.102291; http://hdl.handle.net/2445/198386; 728066

الاتاحة: http://hdl.handle.net/2445/198386

المؤلفون: Peremiquel-Trillas, Paula, Paytubi Casabona, Sònia, Pelegrina, Beatriz, Frias Gomez, Jon, Carmona, Álvaro, Martínez Delgado, José Manuel, Francisco, Javier de, Benavente, Yolanda, Barahona, Marc, Briansó, Ferran, Canet Hermida, Júlia, Caño, Víctor, Vidal, Augusto, 1909-1976, Zanca, Alba, Baixeras, Núria, Rodríguez, Axel, Fernández Gonzalez, Sergi, Dueñas, Nuria, Càrdenas, Laura, Aytés Meneses, Álvaro, Bianchi, Ilaria, Pavón, Miquel Àngel, Reventós, Jaume, Capellá, G. (Gabriel), Gómez, David, 1968-, Diaz, Mireia, Ponce, Jordi, Brunet, Joan, Matias-Guiu, Xavier, Bosch Font, Francesc, Sanjosé, Silvia de, Alemany, Laia, Pineda, Marta, Marin, Fátima, Costas, Laura

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Càncer d'endometri, Càncer d'ovari, Genòmica, Endometrial cancer, Ovarian cancer, Genomics

وصف الملف: 14 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.3390/jpm12071074; Journal of Personalized Medicine, 2022, vol. 12, num. 7, p. 1074; https://doi.org/10.3390/jpm12071074; http://hdl.handle.net/2445/188929

الاتاحة: http://hdl.handle.net/2445/188929

المؤلفون: Quintana, Isabel, Mur, Pilar, Terradas, Mariona, García Mulero, Sandra, Aiza, Gemma, Navarro García, Matilde, Piñol, Virginia, Brunet, Joan, Moreno Aguado, Víctor, Sanz Pamplona, Rebeca, Capellá, G. (Gabriel), Valle, Laura

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Càncer colorectal, Malalties hereditàries, Cribratge genètic, Colorectal cancer, Genetic diseases, Genetic screening

وصف الملف: 15 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.3390/cancers14030699; Cancers, 2022, vol. 14, num. 3, p. 699; https://doi.org/10.3390/cancers14030699; http://hdl.handle.net/2445/183841; 720541

الاتاحة: http://hdl.handle.net/2445/183841

المؤلفون: Jove, M., Brana, I., Oliva Bernal, M., Hernando-Calvo, A., Erasun Lecuona, C., Assaf Pastrana, J.D., Bazan Peregrino, M., Mato-Berciano, A., Maliandi, M.V., Torres-Manjon, S., Martinez de Villareal, J., Real, F.X., Nuciforo, P.G., Alemany, R., Capella, G., Blasi, E., Blasco, C., Cascallo Piqueras, M., Mesia Nin, R.

المصدر: Annals of Oncology ; volume 33, page S1112 ; ISSN 0923-7534

الاتاحة: http://dx.doi.org/10.1016/j.annonc.2022.07.1349
https://api.elsevier.com/content/article/PII:S0923753422032008?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0923753422032008?httpAccept=text/plain

المؤلفون: Matalonga L., Hernandez-Ferrer C., Piscia D., Cohen E., Cuesta I., Danis D., Denomme-Pichon A. -S., Duffourd Y., Gilissen C., Johari M., Laurie S., Li S., Nelson I., Peters S., Paramonov I., Prasanth S., Robinson P., Sablauskas K., Savarese M., Steyaert W., van der Velde J. K., Vitobello A., Schule R., Synofzik M., Topf A., Vissers L. E. L. M., de Voer R., Aretz S., Capella G., de Voer R. M., Evans G., Pelaez J. G., Holinski-Feder E., Hoogerbrugge N., Laner A., Oliveira C., Rump A., Schrock E., Sommer A. K., Steinke-Lange V., Paske I., Tischkowitz M., Valle L., Banka S., Benetti E., Casari G., Ciolfi A., Clayton-Smith J., Dallapiccola B., de Boer E., Ellwanger K., Faivre L., Graessner H., Haack T. B., Hammarsjo A., Havlovicova M., Hoischen A., Hugon A., Jackson A., Kleefstra T., Lindstrand A., Lopez-Martin E., Macek M., Morleo M., Nigro V., Nordgren A., Pettersson M., Pinelli M., Pizzi S., Posada M., Radio F. C., Renieri A., Rooryck C., Ryba L., Schwarz M., Tartaglia M., Thauvin C., Torella A., Trimouille A., Verloes A., Vissers L., Votypka P., Vyshka K., Zurek B., Baets J., Beijer D., Bonne G., Cossins J., Evangelista T., Hackman P., Hanna M. G., Horvath R., Houlden H., Lau J., Lochmuller H., Macken W. L., Musacchia F., Nascimento A., Natera-de Benito D., Piluso G., Pini V., Pitceathly R. D. S., Polavarapu K., Cruz P. M. R., Sarkozy A., Thompson R., Udd B., Van de Vondel L., Vandrovcova J., Zaharieva I., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Schule-Freyer R., Stevanin G., Timmerman V., van de Warrenburg B., van Os N., Wayand M., Wilke C., Tonda R., Fernandez-Callejo M., Pico D., Garcia-Linares C., Papakonstantinou A., Corvo A., Joshi R., Diez H., Gut I., Beltran S., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Kessler C., Heutink P., Brunner H., Scheffer H., 't Hoen P. A. C., te Paske I., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Specht S., Alexander E., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Bullich G., Garcia C., Hernandez C., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Allamand V., Yaou R. B., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., de Jonghe P., Banfi S., Ferlini A., Selvatici R., Rossi R., Neri M., Spier I., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Castello R., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Beeson D.

المساهمون: Matalonga, L., Hernandez-Ferrer, C., Piscia, D., Cohen, E., Cuesta, I., Danis, D., Denomme-Pichon, A. -S., Duffourd, Y., Gilissen, C., Johari, M., Laurie, S., Li, S., Nelson, I., Peters, S., Paramonov, I., Prasanth, S., Robinson, P., Sablauskas, K., Savarese, M., Steyaert, W., van der Velde, J. K., Vitobello, A., Schule, R., Synofzik, M., Topf, A., Vissers, L. E. L. M., de Voer, R., Aretz, S., Capella, G., de Voer, R. M., Evans, G., Pelaez, J. G., Holinski-Feder, E., Hoogerbrugge, N., Laner, A., Oliveira, C., Rump, A., Schrock, E., Sommer, A. K., Steinke-Lange, V., Paske, I., Tischkowitz, M., Valle, L., Banka, S., Benetti, E., Casari, G., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., de Boer, E., Ellwanger, K., Faivre, L., Graessner, H., Haack, T. B., Hammarsjo, A., Havlovicova, M., Hoischen, A., Hugon, A., Jackson, A., Kleefstra, T., Lindstrand, A., Lopez-Martin, E., Macek, M., Morleo, M., Nigro, V., Nordgren, A., Pettersson, M., Pinelli, M., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Schwarz, M., Tartaglia, M., Thauvin, C., Torella, A., Trimouille, A., Verloes, A., Vissers, L., Votypka, P., Vyshka, K., Zurek, B., Baets, J., Beijer, D., Bonne, G., Cossins, J., Evangelista, T., Hackman, P., Hanna, M. G., Horvath, R., Houlden, H., Lau, J., Lochmuller, H., Macken, W. L.

مصطلحات موضوعية: Diseases, Genetic testing, Genome informatics, Genomic analysis

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34075210; info:eu-repo/semantics/altIdentifier/wos/WOS:000656824000003; volume:29; issue:9; firstpage:1337; lastpage:1347; numberofpages:11; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/H2020/779257, 825575; https://hdl.handle.net/11392/2470697; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107535456; https://www.nature.com/articles/s41431-021-00852-7

الاتاحة: https://hdl.handle.net/11392/2470697
https://doi.org/10.1038/s41431-021-00852-7
https://www.nature.com/articles/s41431-021-00852-7

المؤلفون: Terradas, M., Schubert, S.A., Viana-Errasti, J., Ruano, D., Aiza, G., Nielsen, M., Marciel, P., Tops, C.M., Parra, G., Morreau, H., Torrents, D., Leerdam, M.E. van, Capella, G., Miranda, N.F.C.C. de, Valle, L., Wezel, T. van

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://www.nature.com/articles/s41431-024-01625-8; lumc-id: 188361891; https://hdl.handle.net/1887/3764674

الاتاحة: https://hdl.handle.net/1887/3764674
https://www.nature.com/articles/s41431-024-01625-8
https://doi.org/10.1038/s41431-024-01625-8

المؤلفون: Seppala, TT, Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Hovig, E, Nielsen, M, Sijmons, RH, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, HG, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, JP, Plazzer, JP, Pineda, M, Navarro, M, Vida, JB, Kariv, R, Rosner, G, Pinero, TA, Pavicic, W, Kalfayan, P, Ten Broeke, SW, Jenkins, MA, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, WHDTN, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buttner, R, Gorgens, H, Morak, M, Holzapfel, S, Huneburg, R, Doeberitz, MV, Loeffler, M, Redler, S, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Hopper, JL, Win, AK, Lindor, NM, Gallinger, S, Marchand, LL, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Wadt, KAW, Mourits, MJE, Ketabi, Z, Denton, OG, Rodland, EA, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moslein, G, Rokkones, E, Sampson, JR, Evans, DG, Moller, P

المساهمون: Genome-Scale Biology (GSB) Research Program, HUS Abdominal Center, Clinicum, II kirurgian klinikka, Department of Surgery, Doctoral Programme in Clinical Research

مصطلحات موضوعية: Lynch syndrome, Endometrial cancer, Ovarian cancer, Risk-reducing surgery, Hysterectomy, Oophorectomy, MLH1, MSH2, MSH6, PMS2, COLON-CANCER, SURGERY, COLECTOMY, WOMEN, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

Relation: Seppala , TT , Dominguez-Valentin , M , Crosbie , EJ , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Thomas , H , Hovig , E , Nielsen , M , Sijmons , RH , Bertario , L , Bonanni , B , Tibiletti , MG , Cavestro , GM , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , CA , Green , K , Lalloo , F , Hill , J , Schmiegel , W , Vangala , D , Perne , C , Strauss , HG , Tecklenburg , J , Holinski-Feder , E , Steinke-Lange , V , Mecklin , JP , Plazzer , JP , Pineda , M , Navarro , M , Vida , JB , Kariv , R , Rosner , G , Pinero , TA , Pavicic , W , Kalfayan , P , Ten Broeke , SW , Jenkins , MA , Sunde , L , Bernstein , I , Burn , J , Greenblatt , M , Cappel , WHDTN , Della Valle , A , Lopez-Koestner , F , Alvarez , K , Buttner , R , Gorgens , H , Morak , M , Holzapfel , S , Huneburg , R , Doeberitz , MV , Loeffler , M , Redler , S , Weitz , J , Pylvanainen , K , Renkonen-Sinisalo , L , Lepisto , A , Hopper , JL , Win , AK , Lindor , NM , Gallinger , S , Marchand , LL , Newcomb , PA , Figueiredo , JC , Thibodeau , SN , Therkildsen , C , Wadt , KAW , Mourits , MJE , Ketabi , Z , Denton , OG , Rodland , EA , Vasen , H , Neffa , F , Esperon , P , Tjandra , D , Moslein , G , Rokkones , E , Sampson , JR , Evans , DG & Moller , P 2021 , ' Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report ' , European Journal of Cancer , vol. 148 , pp. 124-133 . https://doi.org/10.1016/j.ejca.2021.02.022; RIS: urn:24639478853965089D368C64FDB8B0DD; ORCID: /0000-0002-5866-4059/work/104769008; ORCID: /0000-0002-4940-3498/work/104769618; http://hdl.handle.net/10138/337489; 4662bc55-8c39-49b3-a1f6-57ee2f806601; 000645079600016

الاتاحة: http://hdl.handle.net/10138/337489

المؤلفون: Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar M. J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

المساهمون: Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, M. J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33972714; info:eu-repo/semantics/altIdentifier/wos/WOS:000648796300001; volume:29; issue:9; firstpage:1332; lastpage:1336; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/H2020/779257, 825575; https://hdl.handle.net/11392/2470695; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105877975; https://www.nature.com/articles/s41431-021-00901-1

الاتاحة: https://hdl.handle.net/11392/2470695
https://doi.org/10.1038/s41431-021-00901-1
https://www.nature.com/articles/s41431-021-00901-1

المؤلفون: Zurek B., Ellwanger K., Vissers L. E. L. M., Schule R., Synofzik M., Topf A., de Voer R. M., Laurie S., Matalonga L., Gilissen C., Ossowski S., 't Hoen P. A. C., Vitobello A., Schulze-Hentrich J. M., Riess O., Brunner H. G., Brookes A. J., Rath A., Bonne G., Gumus G., Verloes A., Hoogerbrugge N., Evangelista T., Harmuth T., Swertz M., Spalding D., Hoischen A., Beltran S., Graessner H., Haack T. B., Demidov G., Sturm M., Kessler C., Wayand M., Wilke C., Traschutz A., Schols L., Hengel H., Heutink P., Brunner H., Scheffer H., Steyaert W., Sablauskas K., Kamsteeg E. -J., van de Warrenburg B., van Os N., te Paske I., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Bros-Facer V., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Vandrovcova J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., Van de Vondel L., Beijer D., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Balicza P., Molnar M. J., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., Macaya A., Marce-Grau A., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Horvath R., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

المساهمون: Zurek, B., Ellwanger, K., Vissers, L. E. L. M., Schule, R., Synofzik, M., Topf, A., de Voer, R. M., Laurie, S., Matalonga, L., Gilissen, C., Ossowski, S., 't Hoen, P. A. C., Vitobello, A., Schulze-Hentrich, J. M., Riess, O., Brunner, H. G., Brookes, A. J., Rath, A., Bonne, G., Gumus, G., Verloes, A., Hoogerbrugge, N., Evangelista, T., Harmuth, T., Swertz, M., Spalding, D., Hoischen, A., Beltran, S., Graessner, H., Haack, T. B., Demidov, G., Sturm, M., Kessler, C., Wayand, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Steyaert, W., Sablauskas, K., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., te Paske, I., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Bros-Facer, V., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34075208; info:eu-repo/semantics/altIdentifier/wos/WOS:000656824000001; volume:29; issue:9; firstpage:1325; lastpage:1331; numberofpages:7; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11392/2470732; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107583586; https://www.nature.com/articles/s41431-021-00859-0

الاتاحة: https://hdl.handle.net/11392/2470732
https://doi.org/10.1038/s41431-021-00859-0
https://www.nature.com/articles/s41431-021-00859-0