المؤلفون: Chan, AJS, Engchuan, W, Reuter, MS, Wang, ZZ, Thiruvahindrapuram, B, Trost, B, Nalpathamkalam, T, Negrijn, C, Lamoureux, S, Pellecchia, G, Patel, R, Sung, WWL, MacDonald, JR, Howe, JL, Vorstman, J, Sondheimer, N, Takahashi, N, Miles, JH, Anagnostou, E, Tammimies, K, Zarrei, M, Merico, D, Stavropoulos, DJ, Yuen, RKC, Fernandez, BA, Scherer, SW

المصدر: Nature communications. 13(1):6463

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151229801

المؤلفون: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, François-Guillaume, Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up

المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)

مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:0022-3476; urn:issn:1097-6833

URL الوصول: https://orbi.uliege.be/handle/2268/312112

المؤلفون: Bhoj, E. J.^{Aff8, Aff9}, Li, M.^{Aff8, Aff9}, Ahrens-Nicklas, R.^{Aff8, Aff9}, Pyle, L. C.^{Aff8, Aff9}, Wang, J.^Aff10, Zhang, V. W.^Aff10, Clarke, C.^{Aff8, Aff9}, Wong, L. J.^Aff10, Sondheimer, N.^{Aff8, Aff9}, Ficicioglu, C.^{Aff8, Aff9}, Yudkoff, M.^{Aff8, Aff9}

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff2}, Baumgartner, Matthias, editor^Aff3, Morava, Eva, editor^Aff4, Patterson, Marc, editor^Aff5, Rahman, Shamima, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports, Volume 19. 19:59-66

المؤلفون: Falabella, M., Kolesar, J. E., Wallace, C., de Jesus, D., Sun, L., Taguchi, Y. V., Wang, C., Wang, T., Xiang, I. M., Alder, J. K., Maheshan, R., Horne, W., Turek-Herman, J., Pagano, P. J., St. Croix, C. M., Sondheimer, N., Yatsunyk, L. A., Johnson, F. B., Kaufman, B. A.^Aff1

المصدر: Scientific Reports. 9(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Sondheimer, N., Aleman, A., Cameron, J., Gonorazky, H., Sabha, N., Oliveira, P., Wahedl, A., Wang, D., Amburgey, K., Shy, M., Dowling, J.

المصدر: In Neuromuscular Disorders October 2022 32 Supplement 1:S93-S93