المؤلفون: Myles, JG, Schoenfeld, M, Shchelochkov, OA, Galarreta-Aima, C, Hall, C, Sloan, JL, Ferry, S, Van Ryzin, C, Chen, K, Manoli, I, Venditti, CP

المصدر: Molecular Genetics and Metabolism ; volume 141, page 108391 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108391Test
https://api.elsevier.com/content/article/PII:S1096719224003226?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224003226?httpAccept=text/plainTest

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

المؤلفون: Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Marini JC, Bryan NS, Erez A, Lee B., SALVIATI, LEONARDO

المساهمون: Nagamani, Sc, Campeau, Pm, Shchelochkov, Oa, Premkumar, Mh, Guse, K, Brunetti Pierri, N, Chen, Y, Sun, Q, Tang, Y, Palmer, D, Reddy, Ak, Li, L, Slesnick, Tc, Feig, Di, Caudle, S, Harrison, D, Salviati, Leonardo, Marini, Jc, Bryan, N, Erez, A, Lee, B.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22541557; info:eu-repo/semantics/altIdentifier/wos/WOS:000303907500007; volume:90; firstpage:836; lastpage:846; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/2513027Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860747260

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.03.018Test
http://hdl.handle.net/11577/2513027Test

المؤلفون: Beck, TF, Veenma, Danielle, Shchelochkov, OA, Yu, ZY, Kim, BJ, Zaveri, HP, Bever, Yolande, Choi, S, Douben, H, Bertin, TK, Patel, PI, Lee, B, Tibboel, Dick, de Klein, Annelies, Stockton, DW, Justice, MJ, Scott, DA

المصدر: Beck , TF , Veenma , D , Shchelochkov , OA , Yu , ZY , Kim , BJ , Zaveri , HP , Bever , Y , Choi , S , Douben , H , Bertin , TK , Patel , PI , Lee , B , Tibboel , D , de Klein , A , Stockton , DW , Justice , MJ & Scott , DA 2013 , ' Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice ' , Human Molecular Genetics , vol. 22 , no. 5 , pp. ....

الإتاحة: https://doi.org/10.1093/hmg/dds507Test
https://pure.eur.nl/en/publications/f1d9b0ac-ce7a-4da7-b034-08e6e7315b2dTest
http://hdl.handle.net/1765/54147Test

المؤلفون: Wat, MJ, Veenma, Danielle, Hogue, J, Holder, AM, Yu, ZY, Wat, JJ, Hanchard, N, Shchelochkov, OA, Fernandes, CJ, Johnson, A (Andrew), Lally, KP, Slavotinek, A, Danhaive, O, Schaible, T, Cheung, SW, Rauen, KA, Tonk, VS, Tibboel, Dick, de Klein, Annelies, Scott, DA

المصدر: Wat , MJ , Veenma , D , Hogue , J , Holder , AM , Yu , ZY , Wat , JJ , Hanchard , N , Shchelochkov , OA , Fernandes , CJ , Johnson , A , Lally , KP , Slavotinek , A , Danhaive , O , Schaible , T , Cheung , SW , Rauen , KA , Tonk , VS , Tibboel , D , de Klein , A & Scott , DA 2011 , ' Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia ' , ....

الإتاحة: https://doi.org/10.1136/jmg.2011.089680Test
https://pure.eur.nl/en/publications/d128f889-91d5-41a4-9ce4-647620e0991fTest
http://hdl.handle.net/1765/33446Test

المؤلفون: Häberle, J, Shchelochkov, OA, Wang, J, Katsonis, P, Hall, L

المصدر: Pediatrics Faculty Publications

العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/5462Test

الإتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/5462Test