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Ultrasound findings of a fetus with osteogenesis imperfecta type I

机译：胎儿I型成骨不全症的超声检查结果

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来源
《Archives of gynecology and obstetrics.》 |2016年第1期|共2页
作者
Takahashi Hironori; Horie Kenji; Hayashi Satoshi; Matsubara Shigeki;
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正文语种 eng
中图分类妇产科学;
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1. Ultrasound findings of a fetus with osteogenesis imperfecta type I [J] . Takahashi Hironori, Horie Kenji, Hayashi Satoshi, Archives of gynecology and obstetrics. . 2016,第1期

机译：胎儿I型成骨不全症的超声检查结果
2. Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII [J] . Huang Yanru, Mei Libin, Lv Weigang, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2017,第期

机译：靶向外壳测序识别P3H1中的新型化合物杂合酶突变，其具有骨质发生缺陷型VIII型
3. Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. [J] . Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Taiwanese journal of obstetrics and gynecology . 2013,第1期

机译：产前诊断为IV型家族性成骨不全症胎儿的COL1A2外显子中c.2279G> A，Gly760Glu的错义突变。
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Influence of a collagen mutation of the mechanical nature of bone: Governing factors in a disease model for osteogenesis imperfecta type IV. [D] . Kozloff, Kenneth Michael. 2005

机译：骨机械性质的胶原蛋白突变的影响：IV型成骨不全症疾病模型中的控制因素。
6. Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings [O] . Shishir Ram Shetty, Deepa Dsouza, Subhas Babu, 2011

机译：成骨不全症（IV型）与兄弟姐妹中的牙齿发现
7. Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome [O] . Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, 2013

机译：胎儿成骨不全IV型胎儿COL1a2外显子37中c.2279G> a，Gly760Glu的错义突变的产前诊断和有利结果

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