يعرض 1 - 20 نتائج من 471 نتيجة بحث عن '"Aretz S"', وقت الاستعلام: 0.69s تنقيح النتائج
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المصدر: European journal of cancer (Oxford, England : 1990). 148:124-133

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal

    المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):705-712

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal

    المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(1):15-25

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal
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    Academic Journal

    المصدر: EClinicalMedicine. 58:101909

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal

    المصدر: Journal of clinical medicine. 10(13)

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal

    المؤلفون: Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V

    المصدر: npj Genomic Medicine, December 2024

    وصف الملف: application/pdf

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    Academic Journal

    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

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    Academic Journal
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    Academic Journal

    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, JP, 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, JP, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Therkildsen, C, Lindberg, LJ, Thorlacius-Ussing, O, Doeberitz, MV, Loeffler, M, Rahner, N, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Huneburg, R, de Vargas, AF, Latchford, A, Gerdes, AM, Backman, AS, 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, Hansen, TV, 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. 20(1):36

    مصطلحات موضوعية: Medicin och hälsovetenskap

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    Academic Journal
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    Academic Journal
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    Academic Journal

    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

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    Conference