المؤلفون: Abdalla, Asmahan T., Koedam, Marijke, Drop, Sten L.S., Boot, Annemieke M., Abdullah, Muhamed A., van der Eerden, Bram C.J.

المصدر: Abdalla , A T , Koedam , M , Drop , S L S , Boot , A M , Abdullah , M A & van der Eerden , B C J 2022 , ' Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene ' , Gene , vol. 844 , 146809 . https://doi.org/10.1016/j.gene.2022.146809Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/1121d084-f829-4370-b095-a11af7240b08Test

الإتاحة: https://doi.org/10.1016/j.gene.2022.146809Test
https://pure.eur.nl/en/publications/1121d084-f829-4370-b095-a11af7240b08Test
https://pure.eur.nl/ws/files/64976834/Clinical_presentation_and_molecular_genetic_analysis_of_a_Sudanese_family.pdfTest
http://www.scopus.com/inward/record.url?scp=85136485875&partnerID=8YFLogxKTest

المؤلفون: Kalaitzoglou, E, Majaliwa, E, Zacharin, M, de Beaufort, C, Chanoine, JP, van Wijngaard-DeVugt, C, Sperla, E, Boot, AM (Annemieke), Drop, Sten

المصدر: Kalaitzoglou , E , Majaliwa , E , Zacharin , M , de Beaufort , C , Chanoine , JP , van Wijngaard-DeVugt , C , Sperla , E , Boot , AM & Drop , S 2020 , ' Multilingual global e-learning pediatric endocrinology and diabetes curriculum for front line health care providers in resource-limited countries: Development study ' , JMIR Formative Research , vol. 4 , no. 11 , e18555 . https://doi.org/10.2196/18555Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.2196/18555Test
https://pure.eur.nl/en/publications/78b8ce36-1037-4e3c-bed3-c906d6eab00fTest
https://pure.eur.nl/ws/files/48405980/Repub_132098_O-A.pdfTest
http://hdl.handle.net/1765/132098Test

المؤلفون: Idkowiak, Jan, Wijngaard-de, Vugt Conny van, van, der Zwan Yvonne, Abu-Libdeh, Abdulsalam, Kalaitzoglou, Evangelia, Drop, Sten, Boot, Annemieke M, Ng, Sze May

المصدر: Endocrine Abstracts ; ISSN 1479-6848

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1530/endoabs.95.p59Test
http://www.endocrine-abstracts.org/ea/0095/ea0095P59Test

المؤلفون: Amolo, P, Laigong, P, Omar, A, Drop, Sten

المصدر: Amolo , P , Laigong , P , Omar , A & Drop , S 2019 , ' Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents ' , International Journal of Endocrinology , vol. 2019 , 2985347 . https://doi.org/10.1155/2019/2985347Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1155/2019/2985347Test
https://pure.eur.nl/en/publications/c4ac13c2-71f2-4e39-938a-7e5c519af04fTest
https://pure.eur.nl/ws/files/48266396/Repub_123306_O-A.pdfTest

المؤلفون: Liu, Fan, Zhong, Kaiyin, Jing, XX, Uitterlinden, André, Hendriks, Emile, Drop, Sten, Kayser, Manfred

المصدر: Liu , F , Zhong , K , Jing , XX , Uitterlinden , A , Hendriks , E , Drop , S & Kayser , M 2019 , ' Update on the predictability of tall stature from DNA markers in Europeans ' , Forensic Science International: Genetics , vol. 42 , pp. 8-13 . https://doi.org/10.1016/j.fsigen.2019.05.006Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.fsigen.2019.05.006Test
https://pure.eur.nl/en/publications/5c3a6427-6682-48af-bf9c-07f21681e308Test
https://pure.eur.nl/ws/files/48244558/Repub_117332_O-A.pdfTest
http://hdl.handle.net/1765/117332Test

المؤلفون: Benabbad, I, Rosilio, M, Child, CJ, Carel, JC, Ross, JL, Deal, CL, Drop, Sten, Zimmermann, AG, Jia, N, Quigley, CA, Blum, WF

المصدر: Benabbad , I , Rosilio , M , Child , CJ , Carel , JC , Ross , JL , Deal , CL , Drop , S , Zimmermann , AG , Jia , N , Quigley , CA & Blum , WF 2017 , ' Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial ' , Hormone Research in Paediatrics , vol. 87 , no. 1 , pp. 42-50 . https://doi.org/10.1159/000452973Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1159/000452973Test
https://pure.eur.nl/en/publications/aab9b81b-3ff7-40e5-adf5-0d998fdca387Test
https://pure.eur.nl/ws/files/47778827/REPUB_108342_OA.pdfTest
http://hdl.handle.net/1765/108342Test

المؤلفون: Zhong, Kaiyin, Zhu, G, Jing, XX, Hendriks, Emile, Drop, Sten, Ikram, Arfan, Gordon, S, Zeng, CQ, Uitterlinden, André, Martin, NG, Liu, Fan, Kayser, Manfred

المصدر: Zhong , K , Zhu , G , Jing , XX , Hendriks , E , Drop , S , Ikram , A , Gordon , S , Zeng , CQ , Uitterlinden , A , Martin , NG , Liu , F & Kayser , M 2017 , ' Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans ' , Human Genetics , vol. 136 , no. 11-12 , pp. 1407-1417 . https://doi.org/10.1007/s00439-017-1842-3Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s00439-017-1842-3Test
https://pure.eur.nl/en/publications/d1e1a34a-cedb-430d-b8a9-dee8df90e27aTest
https://pure.eur.nl/ws/files/47863194/REPUB_102052-OA.pdfTest
http://hdl.handle.net/1765/102052Test

المؤلفون: Hornig, N C, Ukat, M, Schweikert, H U, Hiort, O, Werner, R, Drop, Sten, Cools, M, Hughes, IA, Audi, L, Ahmed, SF, Demiri, J, Rodens, P, Worch, L, Wehner, G, Kulle, A E, Dunstheimer, D, Muller-Rossberg, E, Reinehr, T, Hadidi, A T, Eckstein, A K, van der Horst, C, Seif, C, Siebert, R, Ammerpohl, O, Holterhus, PM

المصدر: Hornig , N C , Ukat , M , Schweikert , H U , Hiort , O , Werner , R , Drop , S , Cools , M , Hughes , IA , Audi , L , Ahmed , SF , Demiri , J , Rodens , P , Worch , L , Wehner , G , Kulle , A E , Dunstheimer , D , Muller-Rossberg , E , Reinehr , T , Hadidi , A T , Eckstein , A K , van der Horst , C , Seif , C , Siebert , R , ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1210/jc.2016-1990Test
https://pure.eur.nl/en/publications/4bca26be-d9e3-44f9-891e-2652b176130dTest
https://pure.eur.nl/ws/files/47745699/REPUB_94260.pdfTest

المؤلفون: Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, Cameron, F, Werther, G, Hutson, J, O'Connell, M, Grover, SR, Heloury, Y, Zacharin, M, Bergman, P, Kimber, C, Brown, J, Webb, N, Hunter, MF, Srinivasan, S (Sharada), Titmuss, A, Verge, CF, Mowat, D, Smith, G, Smith, J, Ewans, L, Shalhoub, C, Crock, P, Cowell, C, Leong, GM, Ono, M, Lafferty, AR, Huynh, T, Visser, U, Choong, CS, McKenzie, F, Pachter, N, Thompson, EM, Couper, J, Baxendale, A, Gecz, J, Wheeler, BJ, Jefferies, C, MacKenzie, K, Hofman, P, Carter, P, King, RI, Krausz, C, van Ravenswaaij-Arts, CMA, Looijenga, LHJ (Leendert), Drop, Sten, Riedl, S, Cools, M, Dawson, A, Juniarto, AZ, Khadilkar, V, Khadilkar, A, Bhatia, V, Dung, VC, Atta, I, Raza, J, Chi, NTD, Hao, TK, Harley, V, Koopman, P, Warne, G, Faradz, S, Oshlack, A, Ayers, KL, Sinclair, AH

المصدر: Eggers , S , Sadedin , S , van den Bergen , JA , Robevska , G , Ohnesorg , T , Hewitt , J , Lambeth , L , Bouty , A , Knarston , IM , Tan , TY , Cameron , F , Werther , G , Hutson , J , O'Connell , M , Grover , SR , Heloury , Y , Zacharin , M , Bergman , P , Kimber , C , Brown , J , Webb , N , Hunter , MF , Srinivasan , S , Titmuss , A , Verge ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM032401, name=EMC MM-03-24-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/cfa8c6a7-ff71-45e0-9bb9-d70aef37e8a8Test

الإتاحة: https://doi.org/10.1186/s13059-016-1105-yTest
https://pure.eur.nl/en/publications/cfa8c6a7-ff71-45e0-9bb9-d70aef37e8a8Test
https://pure.eur.nl/ws/files/47699039/REPUB_94541_OA.pdfTest

المؤلفون: Eggers, Stefanie, Sadedin, Simon, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, van den Bergen, Jocelyn A., Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Robevska, Gorjana, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Ohnesorg, Thomas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Hewitt, Jacqueline, Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Lambeth, Luke, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Bouty, Aurore, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H., Knarston, Ingred M., Tan, Tiong Yang

المساهمون: The University of Newcastle. Faculty of Health & Medicine, School of Medicine and Public Health

مصطلحات موضوعية: disorders of sex development, gonad, variant, mutation, testis, ovaries, ovotestes, massively parallel sequencing, MPS, cohort, targeted gene panel, genetic diagnosis

العلاقة: NHMRC.546517 http://purl.org/au-research/grants/nhmrc/546517Test; Genome Biology Vol. 17, no. 243; http://hdl.handle.net/1959.13/1343327Test; uon:29133

الإتاحة: http://hdl.handle.net/1959.13/1343327Test