Conceptual Breakthroughs In Developmental Biology [PDF]
, 1998 Gilbert, Scott F.
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UNDIAGNOSED THANATOPHORIC DYSPLASIA AT TERM- OBSTETRICIAN’S DILEMMA!!- A CASE REPORT
, 2017 Kshama Kedar +2 more
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Generation of Fgfr3 Conditional Knockout Mice
International Journal of Biological Sciences, 2010 Fibroblast growth factor receptor 3 (FGFR3), highly conserved in both humans and murine, is one of key tyrosine kinase receptors for FGF. FGFR3 is expressed in different tissues, including cartilage, brain, kidney, and intestine at different development ...
Nan Su, Xiaoling Xu, Cuiling Li, Qifen He, Ling Zhao, Can Li, Siyu Chen, Fengtao Luo, Lingxian Yi, Xiaolan Du, Haiyang Huang, Chuxia Deng, Lin Chen
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Stippling: a first trimester marker for thanatophoric dysplasia type I [PDF]
, 2010 Lauren Beuke +3 more
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Fast detection of thanatophoric dysplasia type I p.R248C mutation hot spots and rapid prenatal diagnosis of three TD type I high-risk fetuses [PDF]
, 2017 目的针对致死性侏儒症I型（thanatophoric dysplasia typeⅠ,TD-Ⅰ）FGFR3基因的突变热点＂p.R248C＂,建立快速特异的酶切鉴定法（restriction endonuelease testing,RE）和扩增受阻突变系统（amplification refractory mutation system,ARMS）/RE法,并应用于后续3例疑似TD-I高危胎儿的快速产前诊断,以及时防止患胎出生,同时为今后的胚胎植入前遗传学诊断（preimplantation ...
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Profound Ligand-Independent Kinase Activation of Fibroblast Growth Factor Receptor 3 by the Activation Loop Mutation Responsible for a Lethal Skeletal Dysplasia, Thanatophoric Dysplasia Type II [PDF]
, 1996 Melanie K. Webster +3 more
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G370C Mutation in the <i>FGFR3</i> Gene in a Japanese Patient with Thanatophoric Dysplasia
, 1998 Noriyuki Katsumata +7 more
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Thanatophoric dysplasia, type I [PDF]
Journal of Perinatology, 2012 T E, Herman, M J, Siegel
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A Rare Case Report of Thanatophoric Dysplasia-Type 1
, 2015 Iosr Journals +4 more
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