المؤلفون: Hammarsjo, A, Pettersson, M, Chitayat, D, Handa, A, Anderlid, BM, Bartocci, M, Basel, D, Batkovskyte, D, Beleza-Meireles, A, Conner, P, Eisfeldt, J, Girisha, KM, Chung, BHY, Horemuzova, E, Hyodo, H, Kornejeva, L, Lagerstedt-Robinson, K, Lin, AE, Magnusson, M, Moosa, S, Nayak, SS, Nilsson, D, Ohashi, H, Ohashi-Fukuda, N, Stranneheim, H, Taylan, F, Traberg, R, Voss, U, Wirta, V, Nordgren, A, Nishimura, G, Lindstrand, A, Grigelioniene, G

المصدر: Journal of human genetics. 66(10):995-1008

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146468203Test

المؤلفون: Prakash, SK, San Roman, AK, Crenshaw, M, Flink, B, Earle, K, Los, E, Bonnard, A, Lin, AE

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. 181(1):36-42

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140466749Test

المؤلفون: Flores, AG, Nordgren, I, Pettersson, M, Dias-Santagata, D, Nilsson, D, Hammarsjo, A, Lindstrand, A, Batkovskyte, D, Wiggs, J, Walton, DS, Goldenberg, P, Eisfeldt, J, Lin, AE, Lachman, RS, Nishimura, G, Grigelioniene, G

المصدر: Frontiers in genetics. 14:1174046

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:153178567Test

المؤلفون: Liao å»–, Cheng-Lin 政霖, Chen 陳, Chian-Chou 建州, Wang 王, Wei-Hao 為豪, Smail, Ian, Ao, Y., Chapman, S. C., DudzeviÄiÅ«tÄ—, U., Frias Castillo, M., Lee, Minju M., Serjeant, Stephen, Swinbank, A. M., Taylor, Dominic J., Umehata, Hideki, Zhao, Y.

المصدر: We report the physical properties of the 18 brightest (S870 μm = 12.4–19.2 mJy) and not strongly lensed 870 μm–selected dusty star-forming galaxies (DSFGs), also known as submillimeter galaxies (SMGs), in the COSMOS field. This sample is part of an ALMA band 3 spectroscopic survey (AS2COSPEC), and spectroscopic redshifts are measured in 17 of them at z = 2–5. We perform spectral energy distribution analyses and deduce a median total infrared luminosity of LIR = (1.3 ± 0.1) × 1013L⊙, infrared-based star formation rate (SFR) of SFRIR = 1390 ± 150 M⊙ yr−1, stellar mass of M* = (1.4 ....

مصطلحات موضوعية: Space and Planetary Science, Astronomy and Astrophysics

العلاقة: https://doi.org/10.3847/1538-4357/ad148cTest; oai:authors.library.caltech.edu:jhhr8-t8k88

الإتاحة: https://doi.org/10.3847/1538-4357/ad148cTest

المؤلفون: Wong, WJ, Emdin, C, Bick, AG, Zekavat, SM, Niroula, A, Pirruccello, JP, Dichtel, L, Griffin, G, Uddin, MM, Gibson, CJ, Kovalcik, V, Lin, AE, McConkey, ME, Vromman, A, Sellar, RS, Kim, PG, Agrawal, M, Weinstock, J, Long, MT, Yu, B, Banerjee, R, Nicholls, RC, Dennis, A, Kelly, M, Loh, PR, McCarroll, S, Boerwinkle, E, Vasan, RS, Jaiswal, S, Johnson, AD, Chung, RT, Corey, K, Levy, D, Ballantyne, C, Abe, N, Abecasis, G, Aguet, F, Albert, C, Almasy, L, Alonso, A, Ament, S, Anderson, P, Anugu, P, Applebaum-Bowden, D, Ardlie, K, Arking, D, Arnett, DK, Ashley-Koch, A, Aslibekyan, S, Assimes, T, Auer, P, Avramopoulos, D, Ayas, N, Balasubramanian, A, Barnard, J, Barnes, K, Barr, RG, Barron-Casella, E, Barwick, L, Beaty, T, Beck, G, Becker, D, Becker, L, Beer, R, Beitelshees, A, Benjamin, E, Benos, T, Bezerra, M, Bielak, L, Bis, J, Blackwell, T, Blangero, J, Blue, N, Bowden, DW, Bowler, R, Brody, J, Broeckel, U, Broome, J, Brown, D, Bunting, K, Burchard, E, Bustamante, C, Buth, E, Cade, B, Cardwell, J, Carey, V, Carrier, J, Carson, AP, Carty, C, Casaburi, R, Casas Romero, JP, Casella, J, Castaldi, P, Chaffin, M, Chang, C, Chang, YC, Chasman, D, Chavan, S, Chen, BJ, Chen, WM

المصدر: Nature , 616 (7958) pp. 747-754. (2023)

مصطلحات موضوعية: Ageing, Genome-wide association studies, Metabolic diseases, Non-alcoholic steatohepatitis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10191211/1/Clonal%20haematopoiesis%20and%20risk%20of%20chronic%20liver%20disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10191211Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10191211/1/Clonal%20haematopoiesis%20and%20risk%20of%20chronic%20liver%20disease.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10191211Test/

المؤلفون: Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, J, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, C, Zhang, J, Li, B, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, Y, Zhu, D, Zhang, B, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, López-Giráldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, M, Retterer, K, Millan, F, Wang, Y, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, Lin, AE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, X, Amor, DJ, Zarnescu, DC, Lu, Q, Xing, Q, Zhu, C, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC

المصدر: Nature Genetics , 52 pp. 1046-1056. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10111345/3/Shozeb_CP%20Genomics%20RESUBMISSION_FINAL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10111345Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10111345/3/Shozeb_CP%20Genomics%20RESUBMISSION_FINAL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10111345Test/

المؤلفون: Carvill, GL, Helbig, KL, Myers, CT, Scala, M, Huether, R, Lewis, S, Kruer, TN, Guida, BS, Bakhtiari, S, Sebe, J, Tang, S, Stickney, H, Oktay, SU, Bhandiwad, AA, Ramsey, K, Narayanan, V, Feyma, T, Rohena, LO, Accogli, A, Severino, M, Hollingsworth, G, Gill, D, Depienne, C, Nava, C, Sadleir, LG, Caruso, PA, Lin, AE, Jansen, FE, Koeleman, B, Brilstra, E, Willemsen, MH, Kleefstra, T, Sa, J, Mathieu, M-L, Perrin, L, Lesca, G, Striano, P, Casari, G, Scheffer, IE, Raible, D, Sattlegger, E, Capra, V, Padilla-Lopez, S, Mefford, HC, Kruer, MC

العلاقة: Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A. ,. Kruer, M. C. (2020). Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. HUMAN MUTATION, 41 (7), pp.1263-1279. https://doi.org/10.1002/humu.24015Test.; http://hdl.handle.net/11343/275604Test

الإتاحة: https://doi.org/10.1002/humu.24015Test
http://hdl.handle.net/11343/275604Test

المؤلفون: Gripp, KW, Morse, LA, Axelrad, M, Chatfield, KC, Chidekel, A, Dobyns, W, Doyle, D, Kerr, B, Lin, AE, Schwartz, DD, Sibbles, Barbara, Siegel, D, Shankar, SP, Stevenson, DA, Thacker, MM, Weaver, KN, White, SM, Rauen, KA

المصدر: Gripp , KW , Morse , LA , Axelrad , M , Chatfield , KC , Chidekel , A , Dobyns , W , Doyle , D , Kerr , B , Lin , AE , Schwartz , DD , Sibbles , B , Siegel , D , Shankar , SP , Stevenson , DA , Thacker , MM , Weaver , KN , White , SM & Rauen , KA 2019 , ' Costello syndrome: Clinical phenotype, genotype, and management guidelines ' , American Journal of Medical Genetics Part A , vol. 179 , no. 9 , pp. ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A

العلاقة: https://pure.eur.nl/en/publications/98093463-91f3-4ad7-ab8d-807cd0b70ec8Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61270Test
https://pure.eur.nl/en/publications/98093463-91f3-4ad7-ab8d-807cd0b70ec8Test
http://hdl.handle.net/1765/119466Test

المؤلفون: Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF, Bamba V, Brobin B, Braverman AC, Lesley L Breech LL, Brickman WJ, Brown NM, Bryant N, Cernich JT, Chernausek S, Christin-Maitre S, Corathers SD, Crawford A, Crenshaw ML, Davenport ML, de Backer J, Eagle K, Gawlik A, Gutmark-Little I, Hay D, Hiratzka L, Hong DS, Hovatta O, Hultcrantz M, Johnson WH Jr, Kanaka-Gantenbein C, Karnis MF, Knickmeyer RC, Kristrøm B, Lajiness-O’Neill RR, Landin-Wilhelmsen K, Law JR, Lippe B, Lopez L, Mawson L, Mazzanti L, Mortensen KH, Popovic J, Prakash S, Ranallo KC, Rappold GA, Roos-Hesselink J, Rosenfield R, Ross J, Roulot-Marullo D, Saidi A, Santen RJ, Scurlock CC, Sheanon NM, Smyth A, van Hagen IM, Verlinde F, Wasniewska M and Young LT.

المساهمون: Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF, Bamba V, Brobin B, Braverman AC, Lesley L Breech LL, Brickman WJ, Brown NM, Bryant N, Cernich JT, Chernausek S, Christin-Maitre S, Corathers SD, Crawford A, Crenshaw ML, Davenport ML, de Backer J, Eagle K, Gawlik A, Gutmark-Little I, Hay D, Hiratzka L, Hong DS, Hovatta O, Hultcrantz M, Johnson WH Jr, Kanaka-Gantenbein C, Karnis MF, Knickmeyer RC, Kristrøm B, Lajiness-O’Neill RR, Landin-Wilhelmsen K, Law JR, Lippe B, Lopez L, Mawson L, Mazzanti L, Mortensen KH, Popovic J, Prakash S, Ranallo KC, Rappold GA, Roos-Hesselink J, Rosenfield R, Ross J, Roulot-Marullo D, Saidi A, Santen RJ, Scurlock CC, Sheanon NM, Smyth A, van Hagen IM, Verlinde F, Wasniewska M and Young LT.

مصطلحات موضوعية: turner syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28705803; info:eu-repo/semantics/altIdentifier/wos/WOS:000412594500002; volume:177(3):G1-G70. doi:10.1530/EJE-17-0430.; firstpage:G1; lastpage:G70; numberofpages:79; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/11585/627636Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028665160

الإتاحة: https://doi.org/10.1530/EJE-17-0430Test
http://hdl.handle.net/11585/627636Test