1,884 articles

Case report: A single novel calpain 3 gene variant associated with mild myopathy

in Genetics of Common and Rare Diseases

• Sara Massucco
• Paola Fossa
• Chiara Fiorillo
• Elena Faedo
• Chiara Gemelli
• Rita Barresi
• Michela Ripolone
• Serena Patrone
• Andrea Gaudio
• Paola Mandich

Editorial: Recent advances in understanding the genetics of immunological disorders

in Genetics of Common and Rare Diseases

• Che Kang Lim
• Hassan Abolhassani
• Jinqiao Sun

Genewise detection of variants in MEFV gene using nanopore sequencing

in Genetics of Common and Rare Diseases

• Lilit Ghukasyan
• Gisane Khachatryan
• Tamara Sirunyan
• Arpine Minasyan
• Siras Hakobyan
• Andranik Chavushyan
• Varduhi Hayrapetyan
• Hovsep Ghazaryan
• Gevorg Martirosyan
• Gohar Mkrtchyan

Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

in Genetics of Common and Rare Diseases

• Xiaoqiang Zhou
• Yasi Zhou
• Shuijuan Wu
• Xiaoling Guo
• Liangfeng Yao
• Xingkun Yang

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis

in Genetics of Common and Rare Diseases

• Jorge Alfredo Bevilacqua
• Abdullah Mohammed Al-Salti
• Abubaker Al Madani
• Armando Alves da Fonseca
• Hacer Durmus
• Josiah Chai
• Ali Alshehri
• Márcia Gonçalves Ribeiro
• Paulo Sgobbi
• Sergey S. Nikitin

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family

in Genetics of Common and Rare Diseases

• Qiaomin Zhou
• Minling Chen
• Enfu Tao

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

in Genetics of Common and Rare Diseases

• José L. Santos
• José Patricio Miranda
• Carlos F. Lagos
• Víctor A. Cortés

Longitudinal transcriptome analysis reveals distinct gene expression patterns in traditional Chinese medicine syndromes of upper respiratory tract infections

in Genetics of Common and Rare Diseases

• Hao Zou
• Changrui Huang
• Qinqi Feng
• Bang Yu
• Jian Liu
• Xinyang Shu
• Xiaolu Nie
• Hongchun Zhang
• Xiaohui Zou

Transcriptome analysis revealed that ischemic post-conditioning suppressed the expression of inflammatory genes in lung ischemia-reperfusion injury

in Genetics of Common and Rare Diseases

• Liangen Lin
• Congcong Sun
• Yuanwen Ye
• Peng Zhu
• Keyue Pan
• Linglong Chen

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

in Genetics of Common and Rare Diseases

• Ewa Gajewska
• Jędrzej Fliciński
• Magdalena Sobieska
• Joanna Michalska
• Marcin Żarowski
• Barbara Steinborn

Exploring causal associations between interleukins, their receptors, and acute respiratory distress syndrome: a bidirectional-Mendelian Randomization study

in Genetics of Common and Rare Diseases

• Jia-wei Ma
• Ji-chun Tang
• Hong-zhi Fang

Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom

in Genetics of Common and Rare Diseases

• Haiying Zou
• Li Yang
• Renlong Zhang
• Yao Qin

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

in Genetics of Common and Rare Diseases

• Salia Bamba
• Lala Sidibé
• Seybou H. Diallo
• Lassana Cissé
• Kékouta Dembélé
• Abdoulaye Yalcouyé
• Weizhen Ji
• Mohamed Emile Dembélé
• Salimata Diarra
• Alassane dit Baneye Maiga

Retraction: CircSETD3 (Hsa_circ_0000567) suppresses Hepatoblastoma pathogenesis via targeting the mir-423-3p/Bcl-2-interacting mediator of cell death axis

in Genetics of Common and Rare Diseases

The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa

in Genetics of Common and Rare Diseases

• Huaiyu Wang
• Changhua Zhu
• Linxin Dong
• Baofeng Wu
• Jingjing Liu
• Lihang Lin
• Daoyao Lin
• Xiangqi Chen
• Xuemin Xiao

Genetic screening of α-thalassemia fusion gene using routine flow-through hybridization

in Genetics of Common and Rare Diseases

• Yingbei Huang
• Aiping Ju
• Lihong Zheng
• Biqiu Xu
• Liang Liang
• Youqiong Li