المؤلفون: Khurana, Eeshan^{Aff1, IDs00381024064157_cor1}, Orth, Jennifer, Pletcher, Beth, Turbin, Roger E., Mazzola, Catherine A.

المصدر: Child's Nervous System. 40(8):2609-2614

المؤلفون: Deepsekhar Das, Divya Chauhan, Sahil Agrawal, Mandeep Singh Bajaj

المصدر: Kerala Journal of Ophthalmology, Vol 35, Iss 1, Pp 17-19 (2023)

مصطلحات موضوعية: craniofacial dysmorphism, marshall-smith syndrome, proptosis, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=1;spage=17;epage=19;aulast=Das; https://doaj.org/toc/0976-6677

URL الوصول: https://doaj.org/article/31873d661987466eb3da56426054c2d1

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المؤلفون: Knie, Bettina^{Aff1, Aff2}, Morota, Nobuhito^{Aff2, Aff3}, Ihara, Satoshi, Tamada, Ikkei

المصدر: Child's Nervous System. 37(2):677-682

المؤلفون: Satoko Noguchi, Junichi Saito, Jun Kawaguchi, Tetsuya Kushikata, Kazuyoshi Hirota

المصدر: JA Clinical Reports, Vol 6, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Marshall-Smith syndrome, Tracheo-innominate artery fistula, Difficult airway management, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40981-020-00343-6; https://doaj.org/toc/2363-9024

URL الوصول: https://doaj.org/article/7643987825e4483fb29a3eaa615843a0

المؤلفون: Chen, Harold^Aff2

المساهمون: Chen, Harold^Aff1

المصدر: Atlas of Genetic Diagnosis and Counseling. :2661-2671

المؤلفون: Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I.

المصدر: Journal of Intellectual Disability Research; Dec2020, Vol. 64 Issue 12, p956-969, 14p, 1 Diagram, 4 Charts, 3 Graphs

مصطلحات موضوعية: ADAPTABILITY (Personality), BEHAVIOR, CHILD development, COGNITION, LEARNING strategies, X-linked genetic disorders, PEOPLE with intellectual disabilities, GENETIC mutation, PHENOTYPES, CROSS-sectional method, MARSHALL-Smith syndrome

المؤلفون: Noguchi, Satoko^Aff1, Saito, Junichi, Kawaguchi, Jun, Kushikata, Tetsuya, Hirota, Kazuyoshi

المصدر: JA Clinical Reports. 6(1)

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المؤلفون: Rafael Fabiano Machado Rosa, T.M. Yonamine, Paulo Ricardo Gazzola Zen, Rolando A R Villacis, Desirée Deconte, Maria Angélica Tosi Ferreira, Silvia Regina Rogatto, Catarine Benta Lopes dos Santos, André Luís Soares Longhi, L.T. Nogueira, Rodrigo Ligabue-Braun, Camila Ohomoto de Morais, Marilu Fiegenbaum, Vinícius Bonetti Franceschi

المصدر: Deconte, D, dos Santos, C B L, de Morais, C O, Yonamine, T M, Nogueira, L T, Ferreira, M A T, Franceschi, V B, Longhi, A L S, Villacis, R A R, Rogatto, S R, Ligabue-Braun, R, Zen, P R G, Rosa, R F M & Fiegenbaum, M 2021, ' Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant : Evidence for an abnormal protein function ', Gene Reports, vol. 22, 100991 . https://doi.org/10.1016/j.genrep.2020.100991

مصطلحات موضوعية: 0301 basic medicine, Trigonocephaly, 03 medical and health sciences, 0302 clinical medicine, Marshall–Smith syndrome, Genetics, medicine, Congenital glaucoma, NFIX gene, medicine.diagnostic_test, biology, business.industry, Anatomy, medicine.disease, Ectopic kidney, Marshall-Smith syndrome, NFIX, Hypoplasia, Skull, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Abdominal ultrasonography, biology.protein, Sacral dimple, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8182e18243f6a596fe9dc16bb0ca27
https://portal.findresearcher.sdu.dk/da/publications/67242bf5-3404-45dc-aa96-90a983ee7546