1,830 articles

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

A particular focus on the prevalence of α-thalassemia and β-thalassemia among pregnant women in Changsha County, Hunan Province

in Genetics of Common and Rare Diseases

• Yu Xia
• Cailian Huang
• Mudan Yang
• Meng Zhang
• Yang Lu

A polygenic risk score model for psoriasis based on the protein interactions of psoriasis susceptibility loci

in Genetics of Common and Rare Diseases

• Charalabos Antonatos
• Fotios Koskeridis
• Christiana M. Ralliou
• Evangelos Evangelou
• Katerina Grafanaki
• Sophia Georgiou
• Konstantinos K. Tsilidis
• Ioanna Tzoulaki
• Yiannis Vasilopoulos

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

in Genetics of Common and Rare Diseases

• Cristina Lucia-Campos
• Ilaria Parenti
• Ana Latorre-Pellicer
• Marta Gil-Salvador
• Ilaria Bestetti
• Palma Finelli
• Lidia Larizza
• María Arnedo
• Ariadna Ayerza-Casas
• Julia Del Rincón

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

in Genetics of Common and Rare Diseases

• Tian Lan
• Jin Wang
• Kaibi Chen
• Jianru Zhang
• Xiaohong Chen
• Hui Yao

Bioinformatical analysis and experimental validation of endoplasmic reticulum stress-related biomarker genes in type 2 diabetes mellitus

in Genetics of Common and Rare Diseases

• Lili Yao
• Jie Xu
• Xu Zhang
• Zhuqi Tang
• Yuqing Chen
• Xiaoyu Liu
• Xuchu Duan

Prenatal detection of novel compound heterozygous variants of the PLD1 gene in a fetus with congenital heart disease

in Genetics of Common and Rare Diseases

• Linyan Zhu
• Mei Chen
• Yubo Shi
• Xiaxi Huang
• Huiqing Ding