المؤلفون: Srivastava S., Sahin M., Buxbaum J. D., Berry-Kravis E., Soorya L. V., Thurm A., Bernstein J. A., Asante-Otoo A., Bennett W. E., Betancur C., Brickhouse T. H., Passos Bueno M. R., Chopra M., Christensen C. K., Cully J. L., Dies K., Friedman K., Gummere B., Holder J. L., Jimenez-Gomez A., Kerins C. A., Khan O., Kohlenberg T., Lacro R. V., Levi L. A., Levy T., Linnehan D., Eva L., Moshiree B., Neumeyer A., Paul S. M., Phelan K., Persico A., Rapaport R., Rogers C., Saland J., Sethuram S., Shapiro J., Tarr P. I., White K. M., Wickstrom J., Williams K. M., Winrow D., Wishart B., Kolevzon A.

المساهمون: Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., Bernstein, J. A., Asante-Otoo, A., Bennett, W. E., Betancur, C., Brickhouse, T. H., Passos Bueno, M. R., Chopra, M., Christensen, C. K., Cully, J. L., Dies, K., Friedman, K., Gummere, B., Holder, J. L., Jimenez-Gomez, A., Kerins, C. A., Khan, O., Kohlenberg, T., Lacro, R. V., Levi, L. A., Levy, T., Linnehan, D., Eva, L., Moshiree, B., Neumeyer, A., Paul, S. M., Phelan, K., Persico, A., Rapaport, R., Rogers, C., Saland, J., Sethuram, S., Shapiro, J., Tarr, P. I., White, K. M., Wickstrom, J., Williams, K. M., Winrow, D., Wishart, B., Kolevzon, A.

مصطلحات موضوعية: assessment, autism spectrum disorder, monitoring, Phelan–McDermid syndrome, SHANK3, treatment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37392087; info:eu-repo/semantics/altIdentifier/wos/WOS:001020452500001; volume:191; issue:8; firstpage:2015; lastpage:2044; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11380/1315538Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164135066

الإتاحة: https://doi.org/10.1002/ajmg.a.63312Test
https://hdl.handle.net/11380/1315538Test

المؤلفون: Ji, F., Klarbring, J., Wang, F., Ning, W., Wang, Linqin, Yin, C., Figueroa, J. S. M., Christensen, C. K., Etter, M., Ederth, T., Sun, Licheng, 1962, Simak, S. I., Abrikosov, I. A., Gao, F.

المصدر: Angewandte Chemie International Edition. 59(35):15191-15194

مصطلحات موضوعية: Ag�Bi disorder, band-gap engineering, crystal engineering, Cs2AgBiBr6, lead-free double perovskites, Bismuth compounds, Bromine compounds, Calculations, Cesium compounds, Lead compounds, Optoelectronic devices, Perovskite, Silver compounds, Absorption and photoluminescence, Ambient conditions, Band gap narrowing, Double perovskites, First-principles calculation, Halide perovskites, High-efficiency, Optoelectronic applications, Energy gap

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-286483Test
https://doi.org/10.1002/anie.202005568Test

المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.

المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP

مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177Test

الإتاحة: https://doi.org/20.500.12210/84177Test
https://hdl.handle.net/20.500.12210/84177Test

المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., de Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.

المساهمون: Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden (KUH), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: ISSN: 1756-994X ; Genome Medicine ; https://hal.univ-lille.fr/hal-04219731Test ; Genome Medicine, 2021, Genome Medicine, 13 (63), ⟨10.1186/s13073-021-00870-6⟩.

مصطلحات موضوعية: Gene families, Cortex development, hnRNPs, Neurodevelopmental disorders, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33874999; hal-04219731; https://hal.univ-lille.fr/hal-04219731Test; https://hal.univ-lille.fr/hal-04219731/documentTest; https://hal.univ-lille.fr/hal-04219731/file/s13073-021-00870-6.pdfTest; PUBMED: 33874999

الإتاحة: https://doi.org/10.1186/s13073-021-00870-6Test
https://hal.univ-lille.fr/hal-04219731Test
https://hal.univ-lille.fr/hal-04219731/documentTest
https://hal.univ-lille.fr/hal-04219731/file/s13073-021-00870-6.pdfTest

المؤلفون: Løkkegaard, M., Mortensen, N. H., Jensen, L. S., Christensen, C. K. F.

المساهمون: Marjanović , D., Štorga , M., Škec , S., Bojčetić , N., Pavković, N.

المصدر: Løkkegaard , M , Mortensen , N H , Jensen , L S & Christensen , C K F 2018 , Assessing Increased Product Line Commonality’s Effect on Assembly . in D Marjanović , M Štorga , S Škec , N Bojčetić & N Pavković (eds) , Proceedings of the DESIGN 2018 15th International Design Conference . Design Society , pp. 841-848 , The International Design Conference - DESIGN 2018 , Dubrovnik , Croatia , 21/05/2018 . https://doi.org/10.21278/idc.2018.0112Test

مصطلحات موضوعية: Product platform, Commonality, Experimentation, Product families

العلاقة: https://orbit.dtu.dk/en/publications/a1a2798c-c318-429c-880c-73e4f6febffcTest; urn:ISBN:978-953-7738-59-4

الإتاحة: https://doi.org/10.21278/idc.2018.0112Test
https://orbit.dtu.dk/en/publications/a1a2798c-c318-429c-880c-73e4f6febffcTest

المؤلفون: M�lgaard, H., Christensen, P. D., Hermansen, K., S�rensen, K. E., Christensen, C. K., Mogensen, C. E.

المصدر: Diabetologia ; volume 37, issue 8, page 788-796 ; ISSN 0012-186X 1432-0428

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1007/bf00404336Test

المؤلفون: Mogensen, C. E., Christensen, C. K., Christensen, N. J., Gundersen, H. J. G., Jacobsen, F. K., Pedersen, E. B., Vittinghus, E.

المصدر: Contributions to Nephrology ; Experimental and Clinical Aspects of Proteinuria ; page 139-152 ; ISSN 0302-5144 1662-2782

الإتاحة: https://doi.org/10.1159/000395239Test
https://www.karger.com/Article/Pdf/395239Test
http://www.karger.com/Article/Pdf/395239Test

المؤلفون: Jacobsen, F. K., Christensen, C. K., Mogensen, C. E., Andreasen, F., Heilskov, N. S. C.

المصدر: The British Medical Journal, 1979 Apr . 1(6170), 1049-1050.

الوصول الحر: https://www.jstor.org/stable/25432029Test

المؤلفون: Golomb, M. R., Sokol, D. K., Walsh, L. E., Christensen, C. K., Garg, B. P.

المصدر: Neurology ; volume 62, issue 12, page 2331-2332 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/01.wnl.0000130333.32410.2bTest

المؤلفون: Paaske Johnsen, S, Husted, E S, Ravn, H B, Stödkilde-Jörgensen, H, Peltz-Andresen, E, Christensen, C K

المصدر: Ugeskrift for Laeger. 161(7):945