المؤلفون: Ng, BG, Eklund, EA, Shiryaev, SA, Dong, YY, Abbott, M-A, Asteggiano, C, Bamshad, MJ, Barr, E, Bernstein, JA, Chelakkadan, S, Christodoulou, J, Chung, WK, Ciliberto, MA, Cousin, J, Gardiner, F, Ghosh, S, Graf, WD, Grunewald, S, Hammond, K, Hauser, NS, Hoganson, GE, Houck, KM, Kohler, JN, Morava, E, Larson, AA, Liu, P, Madathil, S, McCormack, C, Meeks, NJL, Miller, R, Monaghan, KG, Nickerson, DA, Palculict, TB, Papazoglu, GM, Pletcher, BA, Scheffer, IE, Schenone, AB, Schnur, RE, Si, Y, Rowe, LJ, Russi, AHS, Russo, RS, Thabet, F, Tuite, A, Villanueva, MM, Wang, RY, Webster, R, Wilson, D, Zalan, A, Wolfe, LA, Rosenfeld, JA, Rhodes, L, Freeze, HH

العلاقة: Ng, B. G., Eklund, E. A., Shiryaev, S. A., Dong, Y. Y., Abbott, M. -A., Asteggiano, C., Bamshad, M. J., Barr, E., Bernstein, J. A., Chelakkadan, S., Christodoulou, J., Chung, W. K., Ciliberto, M. A., Cousin, J., Gardiner, F., Ghosh, S., Graf, W. D., Grunewald, S., Hammond, K. ,. Freeze, H. H. (2020). Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (6), pp.1333-1348. https://doi.org/10.1002/jimd.12290Test.; http://hdl.handle.net/11343/276107Test

الإتاحة: https://doi.org/10.1002/jimd.12290Test
http://hdl.handle.net/11343/276107Test

المؤلفون: Arthur W Jr, Glaze RM, Bhupatkar A, Villado AJ, Bennett W Jr, Rowe LJ, Arthur, Winfred Jr, Glaze, Ryan M, Bhupatkar, Alok, Villado, Anton J, Bennett, Winston Jr, Rowe, Leah J

المصدر: Human Factors; Apr2012, Vol. 54 Issue 2, p277-295, 19p

المؤلفون: Gardner, Ma, Elisabeth Huff-Lonergan, Rowe, Lj, Schultz-Kaster, Cm, Lonergan, Sm

المصدر: Scopus-Elsevier
ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::07481959f59d1c886e5104a30d2fedc3Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-33746181284&partnerID=MN8TOARSTest

المؤلفون: Maddock, Kr, Elisabeth Huff-Lonergan, Rowe, Lj, Lonergan, Sm

المصدر: ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::055a8644e9835d1fed419095ca73be5eTest
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000203095400054&KeyUID=WOS:000203095400054Test

المؤلفون: Rowe, Lj, Maddock, Kr, Lonergan, Sm, Elisabeth Huff-Lonergan

المصدر: Scopus-Elsevier
ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::30a9a9cf02e9936d6c29c302a1928f3cTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-2342503212&partnerID=MN8TOARSTest