Results 141 to 150 of about 6,107 (167)

[Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Shi X   +39 more
europepmc   +1 more source

性发育异常合并恶性精原细胞瘤1例 附视频

open access: yesZhongguo shiyan zhenduanxue
性发育异常是一种少见的先天性畸形,患者在性染色体、性腺、性激素水平及内外生殖器等方面表现异常。其分子遗传学病因复杂,临床表现多样,诊疗过程需要依靠多学科团队的综合判断。目前,随着基因检测、染色体核型分析等技术的发展,其诊断方式逐渐由传统手段向染色体与基因层面发展。并且,辅助生殖技术的发展也为相关患者实现生育愿望带来更多机会。同时,由于存在性腺位置异常、细胞异常分化等高危因素,该类患者性腺发生恶性肿瘤的概率较正常性腺组织明显升高。
doaj  

[A case of Harel-Yoon syndrome with seizures caused by an ATAD3A variant]. [PDF]

open access: yesZhongguo Dang Dai Er Ke Za Zhi
Yang Q, Pan Z, Chen C, Yin F, Peng J.
europepmc   +1 more source

[Clinical features and variant spectrum of <i>FGFR3</i>-related disorders]. [PDF]

open access: yesZhongguo Dang Dai Er Ke Za Zhi
Gu SL   +8 more
europepmc   +1 more source

[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]

open access: yesZhongguo Dang Dai Er Ke Za Zhi
Wang CJ   +8 more
europepmc   +1 more source

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