The Application of Clinical Genetics, Volume 17, Issue (2024)

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The Application of Clinical Genetics, Volume 17, Issue (2024)

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CASE REPORT

Case Report
Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report
Ying Wang, Shaohua Bi, Xiaoqing Shi & Liying Dai
Pages: 63-69
Published online: 27 May 2024
AbstractforOptical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report | Full Text | References | PDF (1.3 MB) | EPUB
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Open Access

SHORT REPORT

Brief Report
Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer
Diana Carolina Sierra-Díaz, Rodrigo Cabrera, Laura Alejandra Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Janeth Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Martin Restrepo, Oscar Ortega-Recalde & Adrien Morel
Pages: 57-62
Published online: 23 May 2024
AbstractforFunctional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer | Full Text | References | PDF (1.9 MB) | EPUB
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Open Access

ORIGINAL RESEARCH

Article
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam
Nguyen Thanh Tung, Trieu Tien Sang, Tran Van Khoa, Nguyen Van Phong & Tran Hoang Phuong
Pages: 47-56
Published online: 06 May 2024
AbstractforPreimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam | Full Text | References | PDF (5 MB) | EPUB
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REVIEW

Review
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population
Wycliff Wodelo, Eddie M Wampande, Alfred Andama, David Patrick Kateete & Kenneth Ssekatawa
Pages: 33-46
Published online: 29 Mar 2024
AbstractforPolymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population | Full Text | References | PDF (537.4 KB) | EPUB
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Open Access

CASE REPORT

Case Report
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations
Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo & Harry Pachajoa
Pages: 23-32
Published online: 19 Feb 2024
AbstractforFamilial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations | Full Text | References | PDF (2.7 MB) | EPUB
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Open Access

SHORT REPORT

Brief Report
Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function
Kristine Andersen, Torben Hansen, Marit Eika Jørgensen & Ninna Senftleber
Pages: 15-21
Published online: 02 Feb 2024
AbstractforHealthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function | Full Text | References | PDF (532 KB) | EPUB
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ORIGINAL RESEARCH

Article
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure
Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, Tianxiang Ni & Junhao Yan
Pages: 1-13
Published online: 31 Jan 2024
AbstractforPreimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure | Full Text | References | PDF (3.2 MB) | EPUB
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Open Access

Explore articles

Explore the most recently published articles

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report
Ying Wang et al.
Case Report | Published online: 27 May 2024
Open Access
Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer
Diana Carolina Sierra-Díaz et al.
Brief Report | Published online: 23 May 2024
Open Access
Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam
Nguyen Thanh Tung et al.
Article | Published online: 6 May 2024
Open Access
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population
Wycliff Wodelo et al.
Review | Published online: 29 Mar 2024
Open Access