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1Academic Journal
المؤلفون: van der Tuin, Karin, Ruano, Dina, Knijnenburg, Jeroen, Luijt, Rob B van der, Morreau, Hans, Links, Thera P, Hes, Frederik J, Consortium, Dutch Pediatric Thyroid Cancer
المصدر: Journal of Clinical Endocrinology & Metabolism; Dec2024, Vol. 109 Issue 12, pe2214-e2221, 8p
مصطلحات موضوعية: WHOLE genome sequencing, GENETIC testing, FAMILY history (Genealogy), GENETIC counseling, THYROID cancer
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2Academic Journal
المؤلفون: van Pottelberghe, Saar, Kupper, Nina, Scheirlynck, Esther, Amin, Ahmad S., Wilde, Arthur A. M., Hofman, Nynke, Callus, Edward, Biller, Ruth, Nekkebroeck, Julie, van Dooren, Sonia, Hes, Frederik J., van der Crabben, Saskia N.
المصدر: van Pottelberghe , S , Kupper , N , Scheirlynck , E , Amin , A S , Wilde , A A M , Hofman , N , Callus , E , Biller , R , Nekkebroeck , J , van Dooren , S , Hes , F J & van der Crabben , S N 2023 , ' Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review ' , European Journal of Human Genetics . https://doi.org/10.1038/s41431-023-01510-w
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3Academic Journal
المؤلفون: Terlouw, Diantha, Hes, Frederik J, Suerink, Manon, Boot, Arnoud, Langers, Alexandra M J, Tops, Carli M, van Leerdam, Monique E, van Asperen, Christi J, Rozen, Steve G, Bijlsma, Emilia K, van Wezel, Tom, Morreau, Hans, Nielsen, Maartje
مصطلحات موضوعية: PostScript
وصف الملف: text/html
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4
المؤلفون: Potjer, Thomas P., Helgadottir, Hildur, Leenheer, Mirjam, Van Der Stoep, Nienke, Gruis, Nelleke A., Höiom, Veronica, Olsson, Håkan, Van Doorn, Remco, Vasen, Hans F.A., Van Asperen, Christi J., Dekkers, Olaf M., Hes, Frederik J.
المصدر: Journal of Medical Genetics BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation EpiHealth: Epidemiology for Health. 55(10):661-668
مصطلحات موضوعية: cancer: dermatological, cancer: head and neck, clinical genetics, genetic epidemiology, genetic screening/counselling, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology
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5Academic Journal
المؤلفون: Joris, Sofie, Giron, Philippe, Olsen, Catharina, Seneca, Sara, Gheldof, Alexander, Staessens, Shula, Shahi, Rajendra Bahadur, De Brakeleer, Sylvia, Teugels, Erik, De Grève, Jacques, Hes, Frederik J.
المصدر: BMC Cancer; 6/13/2024, Vol. 24 Issue 1, p1-9, 9p
مصطلحات موضوعية: GENE families, CANCER genes, PANCREATIC cancer, BREAST cancer, BRCA genes, METASTATIC breast cancer
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6
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7Academic Journal
المؤلفون: Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D Gareth, Genuardi, Maurizio, Hes, Frederik J, Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R, Heinimann, Karl
المساهمون: Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D Gareth, Genuardi, Maurizio, Hes, Frederik J, Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Han, Latchford, Andrew R, Heinimann, Karl
مصطلحات موضوعية: colorectal cancer, genotype–phenotype correlation, hereditary hemorrhagic telangiectasia, juvenile polyposis syndrome, polyposis
Relation: info:eu-repo/semantics/altIdentifier/pmid/32398773; info:eu-repo/semantics/altIdentifier/wos/WOS:000532091600001; firstpage:1524; lastpage:1532; numberofpages:9; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11586/285653
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8Academic Journal
المؤلفون: Overbeek, Kasper A., Rodríguez-Girondo, Mar D.M., Wagner, Anja, Van Der Stoep, Nienke, Van Den Akker, Peter C., Oosterwijk, Jan C., Van Os, Theo A., Van Der Kolk, Lizet E., Vasen, Hans F.A., Hes, Frederik J., Cahen, Djuna L., Bruno, Marco J., Potjer, Thomas P.
المصدر: Overbeek , K A , Rodríguez-Girondo , M D M , Wagner , A , Van Der Stoep , N , Van Den Akker , P C , Oosterwijk , J C , Van Os , T A , Van Der Kolk , L E , Vasen , H F A , Hes , F J , Cahen , D L , Bruno , M J & Potjer , T P 2021 , ' Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants ' , Journal of Medical Genetics , vol. 58 , no. ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Collaborative Group on Duodenal Polyposis in MAP, Thomas, Laura E., Hurley, Joanna J., Alonso Sánchez, Ángel, Aznárez, M. Rosario, Backman, Ann Sofie, Bjork, Jan, Capellá, G. (Gabriel), Clark, Susan K., Colas, Chrystelle, Dekker, Evelien, Dolwani, Sunil, Ghorbanoghli, Zeinab, Gonn, Mark, González Romero, S., Hes, Frederik J., Jundi, Hala, Kelland, Sarah, Latchford, Andrew R., Leon Brito, Helena, Lynch, Patrick M., Meuser, Elena, Mork, Maureen E., Mort, Matthew, Navarro García, Matilde, Nielsen, Maartje, Parc, Yann, Ricci, Maria T., Saurin, Jean Christophe, van der Tuin, Karin, Vasen, Hans, Vilar, Eduardo, Vinet, Olivier, Vitellaro, Marco, Walton, Sarah Jane, West, Hannah D., Sampson, Julian R.
المصدر: Articles publicats en revistes (Ciències Clíniques)
مصطلحات موضوعية: Endoscòpia, Càncer, Estudi de casos, Endoscopy, Cancer, Case studies
وصف الملف: 3 p.; application/pdf
Relation: Reproducció del document publicat a: https://doi.org/10.1053/j.gastro.2020.10.038; Gastroenterology, 2021, vol. 160, num. 3, p. 952-954; https://doi.org/10.1053/j.gastro.2020.10.038; http://hdl.handle.net/2445/174729; 706868
الاتاحة: http://hdl.handle.net/2445/174729
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10Academic Journal
المؤلفون: Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
المساهمون: Maag Lever Darm Stichting
المصدر: Familial Cancer ; volume 21, issue 1, page 79-83 ; ISSN 1389-9600 1573-7292
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11Academic Journal
المؤلفون: Thomas, Laura E., Hurley, Joanna J., Sanchez, Angel Alonso, Aznárez, M. Rosario, Backman, Ann-Sofie, Bjork, Jan, Capella, Gabriel, Clark, Susan K., Colas, Chrystelle, Dekker, Evelien, Dolwani, Sunil, Ghorbanoghli, Zeinab, Gonn, Mark, Gonzalez Romero, S., Hes, Frederik J., Jundi, Hala, Kelland, Sarah, Latchford, Andrew R., Brito, Helena Leon, Lynch, Patrick M., Meuser, Elena, Mork, Maureen E., Mort, Matthew, Garcia, M. Navarro, Nielsen, Maartje, Parc, Yann, Ricci, Maria T., Saurin, Jean-Christophe, Tuin, Karin van der, Vasen, Hans, Vilar, Eduardo, Vinet, Olivier, Vitellaro, Marco, Walton, Sarah-Jane, West, Hannah D., Sampson, Julian R.
المساهمون: Health and Care Research Wales, Ministry of Economy and Competitiveness, FEDER, CIBERONC, Government of Catalonia
المصدر: Gastroenterology ; volume 160, issue 3, page 952-954.e4 ; ISSN 0016-5085
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12Academic Journal
المؤلفون: Buffet, Alexandre, Zhang, Juan, Rebel, Heggert, Corssmit, Eleonora, P M, Jansen, Jeroen, C, Hensen, Erik, F, Bovée, Judith, V M G, Morini, Aurélien, Gimenez-Roqueplo, Anne-Paule, Hes, Frederik, J, Devilee, Peter, Favier, Judith, Bayley, Jean-Pierre
المساهمون: Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Cité (UPCité)
المصدر: The Journal of Clinical Endocrinology & Metabolism ; https://hal.science/hal-03111589 ; The Journal of Clinical Endocrinology & Metabolism, 2020, ⟨10.1210/clinem/dgaa819⟩
مصطلحات موضوعية: Paraganglioma, pheochromocytoma, dihydrolipoamide S-succinyltransferase, DLST, 2-oxoglutarate dehydrogenase, methylation, [SDV]Life Sciences [q-bio]
Relation: hal-03111589; https://hal.science/hal-03111589; https://hal.science/hal-03111589/document; https://hal.science/hal-03111589/file/2020-Buffet-J%20Clin%20Endocrinol%20Metab.pdf
الاتاحة: https://hal.science/hal-03111589
https://hal.science/hal-03111589/document
https://hal.science/hal-03111589/file/2020-Buffet-J%20Clin%20Endocrinol%20Metab.pdf
https://doi.org/10.1210/clinem/dgaa819 -
13Academic Journal
المؤلفون: Cosgun, Betül, Reinders, Marie G H C, van Geel, Michel, Steijlen, Peter M, van Hout, Antonius F W, Leter, Edward M, van der Smagt, Jasper J, van Hagen, Johanna M, Berger, Lieke P V, Kets, C Marleen, Wagner, Anja, Aalfs, Cora M, Hes, Frederik J, van der Kolk, Lizet E, Gille, Johan J P, Mosterd, Klara
المصدر: Cosgun , B , Reinders , M G H C , van Geel , M , Steijlen , P M , van Hout , A F W , Leter , E M , van der Smagt , J J , van Hagen , J M , Berger , L P V , Kets , C M , Wagner , A , Aalfs , C M , Hes , F J , van der Kolk , L E , Gille , J J P & Mosterd , K 2020 , ' Lack of genotype-phenotype correlation in basal cell nevus syndrome ....
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Terlouw, Diantha, Suerink, Manon, Singh, Sunny S., Gille, Hans J. J. P., Hes, Frederik J., Langers, Alexandra M. J., Morreau, Hans, Vasen, Hans F. A., Vos, Yvonne J., van Wezel, Tom, Tops, Carli M., ten Broeke, Sanne W., Nielsen, Maartje
المصدر: Terlouw , D , Suerink , M , Singh , S S , Gille , H J J P , Hes , F J , Langers , A M J , Morreau , H , Vasen , H F A , Vos , Y J , van Wezel , T , Tops , C M , ten Broeke , S W & Nielsen , M 2020 , ' Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy ' , European Journal of Human Genetics , vol. 28 , no. 2 , ....
مصطلحات موضوعية: GERM-LINE MUTATIONS, ADENOMATOUS POLYPOSIS, COLORECTAL-CANCER, RISK, GENE, IDENTIFICATION, PREVALENCE, MOSAICISM, ONSET, FAP
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/b6cac87b-d0cf-4bae-b119-63473484f540
https://research.rug.nl/en/publications/b6cac87b-d0cf-4bae-b119-63473484f540
https://doi.org/10.1038/s41431-019-0509-z
https://pure.rug.nl/ws/files/116878291/Declining_detection_rates_for_APC_and_biallelic_MUTYH_variants_in_polyposis_patients_implications_for_DNA_testing_policy.pdf -
15Academic Journal
المؤلفون: Bayley, Jean Pierre, Bausch, Birke, Rijken, Johannes Adriaan, van Hulsteijn, Leonie Theresia, Jansen, Jeroen C, Ascher, David, Pires, Douglas Eduardo Valente, Hes, Frederik J, Hensen, Erik F, Corssmit, Eleonora P M, Devilee, Peter, Neumann, Hartmut P H
مصطلحات موضوعية: Cancer genetics
وصف الملف: text/html
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16Academic Journal
المصدر: Jonker , M A , Rijken , J A , Hes , F J , Putter , H & Hensen , E F 2019 , ' Estimating the penetrance of pathogenic gene variants in families with missing pedigree information ' , Statistical Methods in Medical Research , vol. 28 , no. 10-11 , pp. 2924-2936 . https://doi.org/10.1177/0962280218791338
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17Academic Journal
المؤلفون: Rijken, Johannes A., van Hulsteijn, Leonie T., Dekkers, Olaf M., Niemeijer, Nicolasine D., Leemans, C. René, Eijkelenkamp, Karin, van der Horst-Schrivers, Anouk N. A., Kerstens, Michiel N., van Berkel, Anouk, Timmers, Henri J. L. M., Kunst, Henricus, Bisschop, Peter H. L. T., Dreijerink, Koen M. A., van Dooren, Marieke F., Hes, Frederik J., Jansen, Jeroen C., Corssmit, Eleonora P. M., Hensen, Erik F.
المصدر: Rijken , J A , van Hulsteijn , L T , Dekkers , O M , Niemeijer , N D , Leemans , C R , Eijkelenkamp , K , van der Horst-Schrivers , A N A , Kerstens , M N , van Berkel , A , Timmers , H J L M , Kunst , H , Bisschop , P H L T , Dreijerink , K M A , van Dooren , M F , Hes , F J , Jansen , J C , Corssmit , E P M & Hensen , E F 2019 ....
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18Academic Journal
المؤلفون: Grolleman, Judith E., de Voer, Richarda M., Elsayed, Fadwa A., Nielsen, Maartje, Weren, Robbert D. A., Palles, Claire, Ligtenberg, Marjolijn J. L., Vos, Janet R., ten Broeke, Sanne W., de Miranda, Noel F. C. C., Kuiper, Renske A., Kamping, Eveline J., Jansen, Erik A. M., Vink-Borger, M. Elisa, Popp, Isabell, Lang, Alois, Spier, Isabel, Hueneburg, Robert, James, Paul A., Li, Na, Staninova, Marija, Lindsay, Helen, Cockburn, David, Spasic-Boskovic, Olivera, Clendenning, Mark, Sweet, Kevin, Capella, Gabriel, Sjursen, Wenche, Hoberg-Vetti, Hildegunn, Jongmans, Marjolijn C., Neveling, Kornelia, van Kessel, Ad Geurts, Morreau, Hans, Hes, Frederik J., Sijmons, Rolf H., Schackert, Hans K., Ruiz-Ponte, Clara, Dymerska, Dagmara, Lubinski, Jan, Rivera, Barbara, Foulkes, William D., Tomlinson, Ian P., Valle, Laura, Buchanan, Daniel. D., Kenwrick, Sue, Adlard, Julian, Dimovski, Aleksandar J., Campbell, Ian G., Aretz, Stefan, Kuiper, Roland P.
المصدر: Grolleman , J E , de Voer , R M , Elsayed , F A , Nielsen , M , Weren , R D A , Palles , C , Ligtenberg , M J L , Vos , J R , ten Broeke , S W , de Miranda , N F C C , Kuiper , R A , Kamping , E J , Jansen , E A M , Vink-Borger , M E , Popp , I , Lang , A , Spier , I , Hueneburg , R , James , P A , Li , ....
مصطلحات موضوعية: GERMLINE MUTATIONS, LYNCH SYNDROME, CANCER, MUTYH, RISK, POLYPOSIS, SPECTRUM
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19Academic Journal
المؤلفون: Potjer, Thomas P., Bollen, Sander, Grimbergen, Anneliese J.E.M., van Doorn, Remco, Gruis, Nelleke A., van Asperen, Christi J., Hes, Frederik J., van der Stoep, Nienke
المساهمون: KWF Kankerbestrijding
المصدر: International Journal of Cancer ; volume 144, issue 10, page 2453-2464 ; ISSN 0020-7136 1097-0215
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20Academic Journal
المؤلفون: Jansen, Anne M. L., Tops, Carli M. J., Ruano, Dina, van Eijk, Ronald, Wijnen, Juul T., ten Broeke, Sanne, Nielsen, Maartje, Hes, Frederik J., van Wezel, Tom, Morreau, Hans
المساهمون: KWF Kankerbestrijding
المصدر: European Journal of Human Genetics ; volume 28, issue 3, page 333-338 ; ISSN 1018-4813 1476-5438
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