全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Yun Li , Qing Pan , Yang-shun Gu
来源:[J].Journal of Zhejiang University-SCIENCE B(IF 1.108), 2017, Vol.18 (5), pp.421-429Springer
摘要:Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiolog...
作者:Ji-jia Liu , Liang-liang Fan , Jin-lan Chen ...
来源:[J].Journal of Zhejiang University SCIENCE B(IF 1.108), 2014, Vol.15 (9), pp.830-837Springer
摘要:Abstract(#br)Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-b...
作者:Christopher S. Wilson , Sydney K. Elizer , Andrew F. Marshall ...
来源:[J].Journal of Diabetes(IF 2.939), 2016, Vol.8 (1), pp.120-131Wiley
摘要:Abstract(#br)Background(#br)Interactions between genetic risk factors and the environment drive type 1 diabetes ( T1D ). The system of T oll‐like receptors ( TLR ) detects these environmental triggers; however, the target cell that intermediates these interactions to drive T...
作者:Zhe Zhang , Ye Feng , Dan Ye ...
来源:[J].Journal of Zhejiang University-SCIENCE B(IF 1.108), 2015, Vol.16 (11), pp.963-968Springer
摘要:Abstract(#br)Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagn...
作者:李敏 , 戈道云 , 陆明
来源:[J].Asian Case Reports in Surgery, 2019, Vol.08 (02), pp.15-22汉斯出版社
摘要:Male children, Uygur, was found three leg deformities at birth, which is confirmed in the local hospital: congenital malformation (hip parasite), unilateral inguinal cryptorchidism, patent ductus arteriosus, congenital anal malformation, congenital malformation of specified intes...
作者:林銘彬(Ming-Bin Lin) , 劉金昌(Gin-Chung Liu) , 周敏雄(Min-Shon Chou) ...
来源:[J].The Kaohsiung Journal of Medical Sciences(IF 0.502), 1991, Vol.7 (4), pp.190-197Airiti
摘要:High-resolution computed tomography (HRCT) was used to study 23 patients with congenital temporal bone deformities. One patient had an inner ear abnormality and 3 patients were combined together with inner, middle and external ear malformations. Embryological development of the o...
作者:邱琬婷(Wan-Ting Chiu) , 吳敏綺(Min-Chee Wu) , 胡淑玲(Shu-Ling Hu) ...
来源:[J].中華皮膚科醫學雜誌(IF 0.218), 2003, Vol.21 (2), pp.198-204Airiti
摘要:We report a case presented with congenital cartilaginous rest of left cheek and clinically bilateralmultiple accessory tragic. The concurrence of these congenital anomalies may originate from the 1 st or2nd pharyngeal arch. A 24-year-old woman was noted to have four asymptomatic ...
作者:林家璽(Kar-Shii Lim)
来源:[J].The Kaohsiung Journal of Medical Sciences(IF 0.502), 1989, Vol.5 (4), pp.212-221Airiti
摘要:From Jun. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Abnomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15years old. Abnormalities diagnosed were Cavum-septi pellucidi;Cavum vergae; Cystically dilated cavum; Cavum vel...
作者:蔡振榮(Chung-Long Tsai) , 吳俊仁(Jiunn-Ren Wu) , 黃德揚(Teh-Yang Huang) ...
来源:[J].The Kaohsiung Journal of Medical Sciences(IF 0.502), 1991, Vol.7 (4), pp.198-201Airiti
摘要:Congenital atrioventricular block is a congenital disorder of the cardiac conducting system. Pacemaker implantation is the treatment of choice for patients with congenital A-V block if prior medical treatment fails. The criteria for pacemaker implantation in infants and chil...
作者:王璇璣(Hsuan-Chi Wang) , 楊偉琪(Wei-Chi Yang) , 張炯心(Chiung-Hsin Chang) ...
来源:[J].Taiwanese Journal of Obstetrics & Gynecology(IF 1.418), 2003, Vol.42 (3), pp.215-218Airiti
摘要:Objective: As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. We report a case of ACC accidentally found at birth.Case Report(s): A 31-year-old female, gravida 2 para 1, came to ...

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