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1دورية أكاديمية
المؤلفون: Gerver, WJM, Gkourogianni, A, Dauber, A, Nilsson, O, Wit, JM
المصدر: Hormone research in paediatrics. 93(3):164-172
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Baron, J, Savendahl, L, De Luca, F, Dauber, A, Phillip, M, Wit, JM, Nilsson, O
المصدر: Nature reviews. Endocrinology. 11(12):735-746
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Emons, J, Chagin, AS, Savendahl, L, Karperien, M, Wit, JM
المصدر: Hormone research in paediatrics. 75(6):383-391
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Lin, YB, van Duyvenvoorde, HA, Liu, HY, Yang, C, Warsito, D, Yin, C, Kant, SG, Haglund, F, Wit, JM, Larsson, O
المصدر: European journal of endocrinology. 179(2):85-95
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Wit, JM, Sas, Theo, Ranke, MB, van Dommelen, P
المصدر: Wit , JM , Sas , T , Ranke , MB & van Dommelen , P 2021 , ' Catch-up Growth in Prepubertal Children Treated for Juvenile Hypothyroidism and Growth Hormone Deficiency can be Modelled with a Monomolecular Function ' , Journal of Clinical Research in Pediatric Endocrinology , vol. 13 , no. 1 , pp. 15-22 . https://doi.org/10.4274/jcrpe.galenos.2020.2020.0130Test
الإتاحة: https://doi.org/10.4274/jcrpe.galenos.2020.2020.0130Test
https://pure.eur.nl/en/publications/1a7ac4e3-342c-40d1-bd89-2a5c1149c4f0Test
https://publications.tno.nl/publication/34637266/axxtDyTest/wit-2021-catch.pdf -
6دورية أكاديمية
المؤلفون: Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M
المساهمون: Consortium, Genomics England Research
العلاقة: https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40Test; https://doi.org/10.1016/j.ajhg.2020.11.015Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.015Test
https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40Test -
7دورية أكاديمية
المؤلفون: Lin, YC, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, NM, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, RB, Tartaglia, M
المصدر: American Journal of Human Genetics , 108 (1) pp. 115-133. (2021)
مصطلحات موضوعية: SCUBE, BMP, BMP receptors, bone morphogenetic protein, skeletal development, morphogenesis, genomic sequencing, mechanism of disease, intracellular signaling
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158748Test/
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8دورية أكاديمية
المؤلفون: Joustra, SD, Kamp, GA, Stalman, SE, Donze, Stephany, Losekoot, M, Kant, SG, Bruin, C, Oostdijk, W, Wit, JM
المصدر: Joustra , SD , Kamp , GA , Stalman , SE , Donze , S , Losekoot , M , Kant , SG , Bruin , C , Oostdijk , W & Wit , JM 2020 , ' Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects ' , Hormone Research in Paediatrics , vol. 92 , no. 6 , pp. 372-381 . https://doi.org/10.1159/000507215Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1159/000507215Test
https://pure.eur.nl/en/publications/42ed0af8-7d2d-451d-8021-b06b5e7d09a6Test
https://pure.eur.nl/ws/files/48356660/Repub_127071_O-A.pdfTest -
9دورية أكاديمية
المؤلفون: Savage, MO, Backeljauw, PF, Calzada, R, Cianfarani, S, Dunkel, L, Koledova, E, Wit, JM, Yoo, HW
المصدر: Hormone research in paediatrics. 85(5):325-332
مصطلحات موضوعية: Medicin och hälsovetenskap
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10دورية أكاديمية
المؤلفون: Collett-Solberg, PF, Ambler, G, Backeljauw, PF, Bidlingmaier, M, Biller, BMK, Boguszewski, MCS, Cheung, PT, Choong, CSY, Cohen, LE, Cohen, P, Dauber, A, Deal, CL, Gong, C, Hasegawa, Y, Hoffman, AR, Hofman, PL, Horikawa, R, Jorge, AAL, Juul, A, Kamenický, P, Khadilkar, V, Kopchick, JJ, Kriström, B, Lopes, ML, Luo, X, Miller, BS, Misra, M, Netchine, Radovick, S, Ranke, MB, Rogol, AD, Rosenfeld, RG, Saenger, P, Wit, JM, Woelfle, J
مصطلحات موضوعية: Child, Humans, Growth Disorders, Human Growth Hormone, HDE END PED
العلاقة: Horm Res Paediatr . 2019;92(1):1-14; http://hdl.handle.net/10400.17/3493Test
النص الكامل