日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

双等位基因 GLTP 突变通过破坏表皮葡糖基神经酰胺的转运,导致非综合征性表皮分化障碍。

Zhang Zeqiao, Huang Shimiao, Jackson Adam, Jones Elizabeth A, Banka Siddharth, Yang Chao, Zhao Sisi, Lv Kunlun, Peng Sha, Lin Zhimiao, Wang Huijun

De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.

De Novo Germline L858R EGFR 变异与全身性黑棘皮病。

Jiang Xingyuan, Jeng Mark Y, Yang Zhou, Ugwu Nelson, Cheng Yuan, Echeandia-Francis Caroline, Mortlock Ryland D, Mani Mitra V, Rekhtman Natasha, Podolanczuk Anna J, Fiorino Elizabeth, Plodkowski Andrew, Lekwuttikarn Ramrada, Teng Joyce, Walsh Michael F, Yu Helena A, Lin Zhimiao, Choate Keith A

Nasal Plaque with Central Eschar in an Infant: A Quiz

婴儿鼻腔中央焦痂斑块:一项测验

Pei, Xiaoping; Xue, Ruzeng; Yang, Chao; Qin, Xiaoling; Lin, Zhimiao

Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma

一种新的TP63突变(c.1768C>T,p.Pro590Ser)扩展了TP63相关疾病的表型谱:重度掌跖角化过度、外胚层发育不良和皮肤鳞状细胞癌

Xu, Xiukuan; Lin, Zhimiao; Lin, Yayan; Kang, Hong; Xiao, Cuirong

A novel loss-of-function variant in STAT1 causes Mendelian susceptibility to mycobacterial disease.

STAT1 中一种新的功能丧失变异导致孟德尔遗传的结核分枝杆菌病易感性

Lv Kunlun, Gong Zhuoqing, Fu Yiting, Zhao Sisi, Song Yinggai, Wang Huijun, Lin Zhimiao

Epidermolysis Bullosa Pruriginosa Treated With Upadacitinib

使用乌帕替尼治疗大疱性表皮松解症瘙痒症

Zhang, Zeqiao; Lin, Zhimiao

Bilateral Symmetrical Nodules on the Thumbs in a Female Patient: A Quiz

女性患者双侧拇指对称性结节:一项测试

Lee, TungChun; Huang, YiKe; Wang, Juan; Lin, Zhimiao

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations

中国儿童血管畸形患者群体的体细胞突变谱

Zhang, Bin; He, Rui; Xu, Zigang; Sun, Yujuan; Wei, Li; Li, Li; Liu, Yuanxiang; Guo, Wu; Song, Li; Wang, Huijun; Lin, Zhimiao; Ma, Lin

CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab

CARD14错义变异是CARD14相关丘疹鳞屑性皮疹的根本原因,对司库奇尤单抗治疗有良好反应

Dai, Shangzhi; Zhang, Shanshan; Wang, Chenliang; Lin, Xin; Lin, Zhimiao

ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus

贝克尔痣中ACTB基因突变分析及基因型-表型相关性

Dai, Shangzhi; Wang, Huijun; Lin, Zhimiao