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ISSN: 1178-704X
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Archive: Volume 7, 2014

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

Boonyawat B, Monsereenusorn C, Traivaree C
The Application of Clinical Genetics 2014, 7:253-258
Published Date: 10 December 2014

Splicing modulation therapy in the treatment of genetic diseases
Arechavala-Gomeza V, Khoo B, Aartsma-Rus A
The Application of Clinical Genetics 2014, 7:245-252
Published Date: 4 December 2014

New insights into the genetic basis of infertility
Venkatesh T, Suresh PS, Tsutsumi R
The Application of Clinical Genetics 2014, 7:235-243
Published Date: 1 December 2014

The genetics of Leigh syndrome and its implications for clinical practice and risk management
Ruhoy IS, Saneto RP
The Application of Clinical Genetics 2014, 7:221-234
Published Date: 13 November 2014

Current status of gene therapy for breast cancer: progress and challenges
McCrudden CM, McCarthy HO
The Application of Clinical Genetics 2014, 7:209-220
Published Date: 10 November 2014

Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
Roma-Rodrigues C, Fernandes AR
The Application of Clinical Genetics 2014, 7:195-208
Published Date: 3 October 2014

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)
Buchanan DD, Rosty C, Clendenning M, Spurdle AB, Win AK
The Application of Clinical Genetics 2014, 7:183-193
Published Date: 6 October 2014

A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome
El Husny AS, Raiol-Moraes M, Fernandes-Caldato MC, Ribeiro-dos-Santos Â
The Application of Clinical Genetics 2014, 7:177-182
Published Date: 30 September 2014


Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene


Milani D, Pezzani L, Tabano S, Miozzo M
The Application of Clinical Genetics 2014, 7:169-175
Published Date: 16 September 2014

Ataxia-telangiectasia: future prospects
Chaudhary MW, Al-Baradie RS
The Application of Clinical Genetics 2014, 7:159-167
Published Date: 10 September 2014


The genetic basis of Lynch syndrome and its implications for clinical practice and risk management


Cohen SA, Leininger A
The Application of Clinical Genetics 2014, 7:147-158
Published Date: 22 July 2014

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis
Gallati S
The Application of Clinical Genetics 2014, 7:133-146
Published Date: 10 July 2014

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg D, Haidar H, Rousseau F
The Application of Clinical Genetics 2014, 7:127-131
Published Date: 7 July 2014

Optimal management of complications associated with achondroplasia
Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R
The Application of Clinical Genetics 2014, 7:117-125
Published Date: 24 June 2014

The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis
Tsui FW, Tsui HW, Akram A, Haroon N, Inman RD
The Application of Clinical Genetics 2014, 7:105-115
Published Date: 22 May 2014

Angelman syndrome: review of clinical and molecular aspects
Bird LM
The Application of Clinical Genetics 2014, 7:93-104
Published Date: 16 May 2014

Influence of oncogenic transcription factors on chromatin conformation and implications in prostate cancer
Yang YA, Kim J, Yu J
The Application of Clinical Genetics 2014, 7:81-91
Published Date: 12 May 2014

Overview of the genetic determinants of primary aldosteronism
Al-Salameh A, Cohen R, Desailloud R
The Application of Clinical Genetics 2014, 7:67-79
Published Date: 8 April 2014

Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments
Buchbinder D, Nugent DJ, Filipovich AH
The Application of Clinical Genetics 2014, 7:55-66
Published Date: 3 April 2014

Hypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome
Gragnoli C
The Application of Clinical Genetics 2014, 7:43-53
Published Date: 1 April 2014

Genetics of bipolar disorder
Kerner B
The Application of Clinical Genetics 2014, 7:33-42
Published Date: 12 February 2014

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants
Sayols-Baixeras S, Lluís-Ganella C, Lucas G, Elosua R
The Application of Clinical Genetics 2014, 7:15-32
Published Date: 16 January 2014

Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension
Moraitis AG, Rainey WE, Auchus RJ
The Application of Clinical Genetics 2014, 7:1-13
Published Date: 24 December 2013