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1دورية أكاديمية
المؤلفون: Sousa S. B., Hennekam R. C., Abdul-Rahman O., Alders M., Azzarello-Burri S., Bottani A., Bowdin S., Castori M., Cormier-Daire V., Deardorff M., Del Campo Casanelles M., Devriendt K., Fauth C., Filges I., Fryer A., Garavelli L., Gillessen-Kaesback G., Hall B., Hirofumi O., Holder S., Hoyer J., Jenkins L., Klapeki J., Krajewska-Walasek M., Kosho T., Kuechler A., MacDermot K., Magee A., Mari F., Mathieu-Dramard M., Napier M., Perez-Jurado L. A., Picard F. M., Morin G., Murday V., Pilch J., Ronan A., Rosser E., Santen G. W. E., Scott R., Selicorni A., Shannon N., Santos-Simarro F., Stewart H., van den Boogaard M. -J., Vilain C., Vermeesch J., Vogels A., Wakeling E., Wieczorek D., Yesil G., Zuffardi O., Zweier C.
المساهمون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.
مصطلحات موضوعية: BAF (SWI/SNF) complex, Genotype, Intellectual disability, Natural history, Nicolaides-baraitser syndrome, Phenotype, SMARCA2, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Epilepsy, Face, Facie, Foot Deformities, Congenital, Genetic Association Studie, Hair, Human, Hypotrichosi, Skin Abnormalitie, Transcription Factor, Young Adult, Mutation
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25169058; info:eu-repo/semantics/altIdentifier/wos/WOS:000342343200007; volume:166; issue:3; firstpage:302; lastpage:314; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/11365/1078710Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908617685; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1552-4876
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المؤلفون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (3)
مصطلحات موضوعية: Foot Deformities, Adult, Nicolaides-baraitser syndrome, Genotype, Adolescent, Foot Deformities, Congenital, Natural history, Hypotrichosis, Congenital, Young Adult, Intellectual Disability, SMARCA2, Humans, Abnormalities, Multiple, Preschool, Child, Genetic Association Studies, Epilepsy, BAF (SWI/SNF) complex, Intellectual disability, Phenotype, Child, Preschool, Face, Facies, Hair, Skin Abnormalities, Transcription Factors, Mutation, Abnormalities, Multiple
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5d02eb4f0616e19e9792d85dfaf201Test
https://pubmed.ncbi.nlm.nih.gov/25169058Test
