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The Application of Clinical Genetics
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Volume 4, Issue

The Application of Clinical Genetics

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Cover image for The Application of Clinical Genetics, Volume 4, 2011

The Application of Clinical Genetics, Volume 4, Issue (2011)

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The Application of Clinical Genetics, Volume 4, Issue (2011)

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Vol 17, 2024 Vol 16, 2023 Vol 15, 2022 Vol 14, 2021 Vol 13, 2020 Vol 12, 2019 Vol 11, 2018 Vol 10, 2017 Vol 9, 2016 Vol 8, 2015 Vol 7, 2014 Vol 6, 2013 Vol 5, 2012 Volume 4, 2011 Vol 3, 2010 Vol 2, 2009 Vol 1, 2008

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Original Research

Article

FAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer

Robert P Young, Raewyn J Hopkins, Bryan A Hay, Chris F Whittington, Michael J Epton & Gregory D Gamble

Pages: 1-10

Published online: 22 Dec 2010

AbstractforFAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer | Full Text | References | PDF (576.5 KB)

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Open Access

Review

Review Article

The genetics of breast cancer: risk factors for disease

Andrew Collins & Ioannis Politopoulos

Pages: 11-19

Published online: 07 Jan 2011

AbstractforThe genetics of breast cancer: risk factors for disease | Full Text | References | PDF (172.1 KB)

313 Views
23 CrossRef citations
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Open Access

Review Article

Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome

Eugen Dhimolea

Pages: 21-27

Published online: 26 Jan 2011

AbstractforInterleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome | Full Text | References | PDF (132.6 KB)

56 Views
5 CrossRef citations
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Open Access

Review Article

Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents

Steve D Wilton & Sue Fletcher

Pages: 29-44

Published online: 28 Dec 2022

AbstractforNovel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents | Full Text | References | PDF (240.1 KB)

62 Views
1 CrossRef citations
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Open Access

Original Research

Article

DataGenno: building a new tool to bridge molecular and clinical genetics

Fabricio F Costa, Luciano S Foly & Marcelo P Coutinho

Pages: 45-54

Published online: 18 Mar 2011

AbstractforDataGenno: building a new tool to bridge molecular and clinical genetics | Full Text | References | PDF (1.9 MB)

61 Views
6 CrossRef citations
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Open Access

Review

Review Article

Alpha₁-antitrypsin deficiency: a clinical-genetic overview

Raja T Abboud, Tanya N Nelson, Benjamin Jung & Andre Mattman

Pages: 55-65

Published online: 31 Mar 2011

AbstractforAlpha₁-antitrypsin deficiency: a clinical-genetic overview | Full Text | References | PDF (186 KB)

200 Views
25 CrossRef citations
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Open Access

Review Article

Genetic basis of Parkinson’s disease: inheritance, penetrance, and expression

Claudia Schulte & Thomas Gasser

Pages: 67-80

Published online: 01 Jun 2011

AbstractforGenetic basis of Parkinson’s disease: inheritance, penetrance, and expression | Full Text | References | PDF (684.7 KB)

425 Views
41 CrossRef citations
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Open Access

Review Article

Identifying the genetic components underlying the pathophysiology of movement disorders

Mario Ezquerra, Yaroslau Compta & Maria J Marti

Pages: 81-92

Published online: 28 Dec 2022

AbstractforIdentifying the genetic components underlying the pathophysiology of movement disorders | Full Text | References | PDF (200.3 KB)

65 Views
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Open Access

Case Report

Brief Report

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Chantal Farra, Khaled Yunis, Nadine Yazbeck, Marianne Majdalani, Lama Charafeddine, Rima Wakim & Johnny Awwad

Pages: 93-97

Published online: 06 Jul 2011

AbstractforA Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder? | Full Text | References | PDF (129.1 KB)

68 Views
4 CrossRef citations
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Open Access

Perspectives

Article

Genetic evidence linking lung cancer and COPD: a new perspective

Robert P Young, Raewyn J Hopkins, Gregory D Gamble, Carol Etzel, Randa El-Zein & James D Crapo

Pages: 99-111

Published online: 18 Jul 2011

AbstractforGenetic evidence linking lung cancer and COPD: a new perspective | Full Text | References | PDF (317.3 KB)

146 Views
14 CrossRef citations
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Open Access

Review

Review Article

Genetic variations and associated pathophysiology in the management of epilepsy

John C Mulley & Leanne M Dibbens

Pages: 113-125

Published online: 08 Aug 2011

AbstractforGenetic variations and associated pathophysiology in the management of epilepsy | Full Text | References | PDF (213.1 KB)

66 Views
1 CrossRef citations
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Open Access

Review Article

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

Nicholas Ah Mew & Ljubica Caldovic

Pages: 127-135

Published online: 24 Aug 2011

AbstractforN-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment | Full Text | References | PDF (214.1 KB)

181 Views
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Open Access

Original Research

Article

GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect?

Robert P Young, Raewyn J Hopkins, Bryan A Hay & Gregory D Gamble

Pages: 137-144

Published online: 13 Sep 2011

AbstractforGSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect? | Full Text | References | PDF (219.2 KB)

54 Views
6 CrossRef citations
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Open Access

Review

Review Article

Inherited and acquired alterations in development of breast cancer

Piera Rizzolo, Valentina Silvestri, Mario Falchetti & Laura Ottini

Pages: 145-158

Published online: 14 Nov 2011

AbstractforInherited and acquired alterations in development of breast cancer | Full Text | References | PDF (288 KB)

223 Views
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Open Access

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