المؤلفون: Kamil Możdżeń, Agnieszka Murawska, Julia Hypnar, Edward Pędziwiatr, Jakub Pośpiech, Kinga Kowalska-Duplaga

المصدر: Pediatria Polska, Vol 99, Iss 1, Pp 77-83 (2023)

مصطلحات موضوعية: simpson-golabi-behmel syndrome, sgbs, congenital malformation syndrome, gpc3 gene mutation, excessive growth., Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/A-rare-case-of-family-suffering-fromTest-Simpson-Golabi-Behmel-syndrome-with-an-uncommon-manifestation-in-a-mother-and-2-sons,127,51499,1,1.html; https://doaj.org/toc/0031-3939Test; https://doaj.org/toc/2300-8660Test

الوصول الحر: https://doaj.org/article/c20ed81942b7496391c24e10b673de94Test

المؤلفون: Hsiu-Huei Peng, Chung Jen Yu, Yi Chi Chen, Chin-Chieh Hsu, Shuenn-Dyh Chang, Ho-Yen Chueh, Yao-Lung Chang, Po-Jen Cheng, Yen-Chang Lee

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 1, Pp 163-166 (2023)

مصطلحات موضوعية: Simpson–golabi–behmel syndrome type 1, Xq26.2 deletion, GPC3 gene deletion, Prenatal diagnosis, Single nucleotide polymorphism array, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S102845592200359XTest; https://doaj.org/toc/1028-4559Test

الوصول الحر: https://doaj.org/article/0a1c911e90e84b018710119bddcb39d9Test

المؤلفون: Zhihan Hu, Yi Liu, Zongjiang Yao, Liming Chen, Gang Wang, Xiaohui Liu, Yafei Tian, Guangtong Cao

المصدر: Hereditas, Vol 159, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Preadipocytes, Adipogenic differentiation, Angiogenesis, Extracellular matrix, Fat graft, Simpson–Golabi–Behmel syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1601-5223Test

الوصول الحر: https://doaj.org/article/74ca94173c864ddcb546ab5e5f378863Test

المؤلفون: Bu W, Zhu M, Li S, Liu H, Liu X

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 95-98 (2022)

مصطلحات موضوعية: endocrine anomalies, gpc3 gene mutation, simpson-golabi-behmel syndrome (sgbs), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1311-0160Test

الوصول الحر: https://doaj.org/article/c84b6df5520a495faf16d7aecb99300cTest

المؤلفون: Yongbing Guo, Huijing Zhang, Lixin Fan, Junya Chen, Xiaoxiao Zhang, Huixia Yang, Yu Sun

المصدر: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Simpson-Golabi-Behmel syndrome, Dichorionic-diamniotic twin, Fetal medicine, Case report, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2393Test

الوصول الحر: https://doaj.org/article/6624e98516884698b7e92d631bbcfd32Test

المؤلفون: Theresa Reischer, Franco Laccone, Gregor J. Kasprian, Gülen Yerlikaya-Schatten

المصدر: Clinics and Practice, Vol 11, Iss 1, Pp 75-80 (2021)

مصطلحات موضوعية: prenatal diagnosis, exome sequencing, twin pregnancy, Simpson-Golabi-Behmel-syndrome, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2039-7283/11/1/12Test; https://doaj.org/toc/2039-7283Test

الوصول الحر: https://doaj.org/article/4694426b986c4f5688e6c2b76b4194b5Test

المؤلفون: Miehle, Florian, Möller, Gabriele, Cecil, Alexander, Lintelmann, Jutta, Wabitsch, Martin, Tokarz, Janina, Adamski, Jerzy, Haid, Mark

مصطلحات موضوعية: differential mobility spectrometry (DMS), lipidyzer, phenotyping, Simpson-Golabi-Behmel syndrome (SGBS), DDC 610 / Medicine & health, Adipogenesis, Adipocytes, Metabolomics, Mass spectrometry, Lipidomics, Metabolomik, Lipidomik, Fettzelle, Massenspektrometrie

وصف الملف: application/pdf

العلاقة: https://www.mdpi.com/2218-1989/10/6/217/s1Test; http://dx.doi.org/10.18725/OPARU-44342Test; https://oparu.uni-ulm.de/xmlui/123456789/44418Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-44418-7Test

الإتاحة: https://doi.org/10.18725/OPARU-44342Test
https://oparu.uni-ulm.de/xmlui/123456789/44418Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-44418-7Test

المؤلفون: DiStefano, Marina, Roth Flach, Rachel J., Senol-Cosar, Ozlem, Danai, Laura V., Virbasius, Joseph V., Nicoloro, Sarah M., Straubhaar, Juerg R., Dagdeviren, Sezin, Wabitsch, Martin, Gupta, Olga T., Kim, Jason K., Czech, Michael P.

المساهمون: UMass Metabolic Network, Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, Program in Molecular Medicine

المصدر: Molecular metabolism ; 5 ; 12 ; 1149-1161

مصطلحات موضوعية: Adipocyte, BAT, brown adipose tissue, FFA, free fatty acid, GTT, glucose tolerance test, HFD, high fat diet, Hig2, Hypoxia-inducible gene 2, Hypoxia-inducible gene 2 (Hig2), ITT, insulin tolerance test, LD, lipid droplet, Lipolysis, NEFA, non-esterified fatty acid, Obesity, RER, respiratory exchange ratio, SGBS, Simpson-Golabi-Behmel syndrome, SVF, stromal vascular fraction, TG, triglyceride, Ucp1, uncoupling protein 1

العلاقة: Link to Article in PubMed; Mol Metab. 2016 Sep 28;5(12):1149-1161. eCollection 2016 Dec. Link to article on publisher's site; 2212-8778 (Linking); http://hdl.handle.net/20.500.14038/40144Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3949&context=oapubs&unstamped=1Test; https://escholarship.umassmed.edu/oapubs/2944Test; 9532598; oapubs/2944

الإتاحة: https://doi.org/10.1016/j.molmet.2016.09.009Test
https://doi.org/20.500.14038/40144Test
https://hdl.handle.net/20.500.14038/40144Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3949&context=oapubs&unstamped=1Test
https://escholarship.umassmed.edu/oapubs/2944Test

المؤلفون: Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: GPC3, prenatal diagnosis, Simpson–Golabi–Behmel syndrome 1, SNP array, ultrasound, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/0c5b3bac7e8c4017a9f0ec933194da7eTest

المؤلفون: Maria Magdalena Montt-Guevara, Michele Finiguerra, Ilaria Marzi, Tiziana Fidecicchi, Amerigo Ferrari, Alessandro D. Genazzani, Tommaso Simoncini

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: Simpson–Golabi–Behmel syndrome cells (SGBS), 17β-estradiol (E2), insulin pathway, insulin receptor substrate (IRS1), D-Chiro-Inositol (D-Chiro-Ins), Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.660815/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/6f5496fcb7d14f478872c58a3ff0a466Test