Works in Global Medical Genetics, 2025, Vol 12, Issue 2

Results: 10

Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100038

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Agarwal, Kamlesh Kumar;
Agarwal, Lokesh Kumar;
Mathur, Avisha;
Choudhary, Deepti

Publication type:

Article

Significant PK variability of plasma-derived FIX concentrates in chinese children with Haemophilia B: A fixed single-dose study of factor IX-CTBB.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100040

By:

Guoqing Liu;
Di Ai;
Gang Li;
Yingzi Zhen;
Xinyi Wu;
Wanru Yao;
Yunyun Wei;
Zekun Li;
Yaohan Zhou;
Runhui Wu;
Zhenping Chen

Publication type:

Article

Role of agonistic autoantibodies to the angiotensin II type 1 receptor (AT1-AA) in pathogenesis of preeclampsia.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100041

By:

Jing Wang;
Lijuan Shan;
Yanhui Zhao;
Hongwen Cao;
Shuhai Lan;
Yizi Yan

Publication type:

Article

Real-world prognostic factors for first-line EGFR-TKI efficacy in advanced NSCLC patients harboring EGFR 21 L858R mutation.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100051

By:

Yan’e Liu;
Lu Chen;
Xin Zhu;
Hua Zhang;
Baoshan Cao

Publication type:

Article

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100037

By:

Yuanfan Yuan;
Qianqian Huang;
Jiehan Zhang;
Zehua Zhou;
Qing Wan;
Lulu Chen;
Tianshu Zeng;
Huiqing Li;
Qiao Zhang;
Xiang Hu

Publication type:

Article

Noncoding RNAs evolutionarily extend animal lifespan.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2024.100034

By:

Wang, Anyou

Publication type:

Article

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100039

By:

da Cunha, Gabriela Corassa Rodrigues;
de Souza, Vanessa Sodré;
Zuben, Marcus Von;
Córdoba, Mara Santos;
Ayrimoraes Soares, Mayra Veloso;
Bonadio, Raphael Severino;
de Oliveira, Daniela Mara;
de Oliveira, Silviene Fabiana;
de Mazzeu Araújo, Juliana Forte;
Pic-Taylor, Aline

Publication type:

Article

Genetic contributions to the stability and satisfaction in Sexual Relationships.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100043

By:

Eskandar, Kirolos

Publication type:

Article

Exploring molecular mechanisms of drug resistance in bacteria and progressions in CRISPR/Cas9-based genome expurgation solutions.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100042

By:

Vivekanandan, K. E.;
Kumar, P. Vinoth;
Jaysree, R. C.;
Rajeshwari, T.

Publication type:

Article

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100036

By:

Baskar, Dipti;
Christopher, Rita;
Arunachal, Gautham;
Srinivas Anudeep, Davuluri Durga;
Mounika, Ambati;
Sangeeth, T. A .;
Polavarapu, Kiran;
Shalini, BS;
Joshi, Tarachand;
Sanka, Sai Bhargava;
Nashi, Saraswati;
Raja, Pritam;
Chowdary, Ravindranadh Mundlamuri;
Yadav, Ravi;
Nalini, Atchayaram;
Vengalil, Seena

Publication type:

Article