المؤلفون: Lemke, Johannes R.^{Aff1, Aff2, IDs10309024006749_cor1}, Brandt, Christian, Krawitz, Peter

المصدر: Clinical Epileptology. :1-5

المؤلفون: Ana Braslavsky, Valentina Riveros

المصدر: Revista del Hospital Italiano de Buenos Aires, Vol 43, Iss 3, Pp 143-146 (2023)

مصطلحات موضوعية: global developmental delay, chromosome 7q11.23 microduplication syndrome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://ojs.hospitalitaliano.org.ar/index.php/revistahi/article/view/223/187; https://doaj.org/toc/2314-3312

URL الوصول: https://doaj.org/article/06cf8a45b316400391890947eec59187

المؤلفون: Sherer, David M.^{Aff1, IDs4047702100638z_cor1}, Hsieh, Vicky, Granderson, Freeda, Yusuf, Hakeem, Dalloul, Mudar

المصدر: Journal of Ultrasound: The Official Journal of the Italian Society for Ultrasound in Medicine and Biology. 25(3):645-647

المؤلفون: Donabedian, Patrick L., Walia, Jessica Y., Agarwal-Sinha, Swati^{Aff2, IDs1288602202298x_cor3}

المصدر: BMC Ophthalmology. 22(1)

المؤلفون: Patrick L. Donabedian, Jessica Y. Walia, Swati Agarwal-Sinha

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: CHARGE syndrome, 7q11.23 duplication, Coloboma, Case report, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/2df3eb488ad54c349d4fc4464abc0846

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المؤلفون: Semra Gürsoy, Filiz Hazan, Cüneyt Zihni, Sezer Acar, Murat Muhtar Yılmazer, Timur Meşe, Behzat Özkan

المصدر: Journal of Pediatric Research, Vol 8, Iss 3, Pp 297-302 (2021)

مصطلحات موضوعية: williams-beuren syndrome, 7q11.23 deletion, supravalvular aortic stenosis, pulmonary stenosis, intellectual disability, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/archives/archive-detail/article-preview/spectrum-of-clinical-manifestations-in-turkish-pat/48645; https://doaj.org/toc/2147-9445; https://doaj.org/toc/2587-2478

URL الوصول: https://doaj.org/article/56a7e3460ec04a8a8563d29e7c9dd628

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المؤلفون: Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K. C. Yuen

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: 7q11.23 duplication syndrome, Autism spectrum disorder, Phenotypic variability, Single nucleotide variant, Copy number variant, Whole genome sequencing, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/850b47c9a2c641a4801f7fc30fe86317

المؤلفون: Francesca Cavallo, Flavia Troglio, Giovanni Fagà, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, Matteo Zanella, Giuseppe D’Agostino, James M. Hughes, Maria Rosaria Cera, Maurizio Pasi, Michele Gabriele, Maddalena Lazzarin, Marija Mihailovich, Frank Kooy, Alessandro Rosa, Ciro Mercurio, Mario Varasi, Giuseppe Testa

المصدر: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)

مصطلحات موضوعية: Autism spectrum disorder, 7q11.23 duplication syndrome, Intellectual disability, High-throughput screening, HDAC inhibitors, Induced pluripotent stem cells, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00387-6; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/8a6215aea7bb40f2bf98c05a3d022f77