418 articles

PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report

in Genetics of Common and Rare Diseases

• Jacek Kobak
• Mateusz Szczupak
• Karolina Czerkiewicz
• Sergiusz Bielocerkowski
• Sabina Krupa-Nurcek

Prevalence of IVIG resistance in Kawasaki disease: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

• Shuting Zou
• Bingyu Hu

Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation

in Genetics of Common and Rare Diseases

• Zhao Na
• Hang Yang
• CHEN LI
• Han Xiao
• Bo Hai
• Chuanxin Li
• Xiaohui Xie
• Qiang Bai

Case Report: Two children with factor XII deficiency caused by novel F12 compound heterozygous variants

in Genetics of Common and Rare Diseases

• Rui-Xue Ma
• Hai-Yan Li
• Yi-Hang Zhang
• Xue-Min Zhang
• Yan-Juan Chen
• Yi-Lin Dai
• Gui-Xian Li
• Wen-Hai Luo
• Jie Zhang
• Yun-Fen Tian

Novel compound heterozygous TCTN1 variants cause Joubert syndrome in a Chinese boy

in Genetics of Common and Rare Diseases

• Dan Li
• Qi Wang
• Xiaofei Zhang
• Libin Wang
• Xiao Ge Zhang
• Yun Xie

A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient

in Genetics of Common and Rare Diseases

• Qiang Zhang
• Qi Yang
• Xunzhao Zhou
• Sujie Zhang
• Jingsi Luo

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1

in Genetics of Common and Rare Diseases

• V. Napoli
• S. Guerrera
• F. Demaria
• G. Piccolo
• A. Cianfa
• S. Passarini
• M. G. Logrieco
• G. Zanni
• G. Valeri
• S. Vicari

Retraction: ORMDL3 promotes angiogenesis in chronic asthma through the ERK1/2/VEGF/MMP-9 pathway

in Genetics of Common and Rare Diseases

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

in Genetics of Common and Rare Diseases

• Jie Gao
• Ruiqin Wang
• Zhen Pan
• Ruolan Hu
• Mingyan Jiang
• Jinrong Li

Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease

in Genetics of Common and Rare Diseases

• Vincenza Gragnaniello
• Silvia Carraro
• Tiziana Zangardi
• Chiara Cazzorla
• Daniela Gueraldi
• Alberto B. Burlina

Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family

in Genetics of Common and Rare Diseases

• Feng Ding
• Junlin Pan
• Shuhua Ji
• Yan Zhang
• Jinwei Hou
• Na Shi
• Haiping Liu

In-depth analysis of cystic fibrosis cases caused by CFTR gene variation and research on the prediction and simulation of the impact on protein function

in Genetics of Common and Rare Diseases

• Yuxia Shan
• Ziwei Zhu
• Xiaomei Liu
• Lei Chi
• Jianqin Zhang
• Li Cheng
• Tianyi Liu

Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report

in Genetics of Common and Rare Diseases

• Linlin Bao
• Qian Li
• Zhicao Yue
• Fang Yang

Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

in Genetics of Common and Rare Diseases

• Min Zhang
• Zhaodong Lin
• Meihuan Chen
• Danhua Guo
• Qiaomei Yang
• Qianqian He
• Bin Mao
• Bin Liang
• Lingji Chen
• Meiying Cai