1,825 articles

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

Identification of m5C-Related gene diagnostic biomarkers for sepsis: a machine learning study

in Genetics of Common and Rare Diseases

• Siming Lin
• Kexin Cai
• Shaodan Feng
• Zhihong Lin

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

in Genetics of Common and Rare Diseases

• Elena Kondratyeva
• Yuliya Melyanovskaya
• Victoriya Sherman
• Anna Voronkova
• Elena Zhekaite
• Stanislav Krasovsky
• Elena Amelina
• Nataliya Kashirskaya
• Vera Shadrina
• Alexander Polyakov

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation

in Genetics of Common and Rare Diseases

• Anna Teplyshova
• Artem Sharkov

Corrigendum: Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review

in Genetics of Common and Rare Diseases

• Dehua Gao
• Wen Zhong
• Weiru Zhang
• Xuan Wang
• Weiping Li
• Jun Liu

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

in Genetics of Common and Rare Diseases

• Larissa Nascimento Antunes
• Alex Marcel Moreira Dias
• Beatriz Cetalle Schiavo
• Beatriz C. A. Mendes
• Debora Romeo Bertola
• Karina Lezirovitz
• Regina Célia Mingroni-Netto