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The Application of Clinical Genetics
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Volume 5, Issue

The Application of Clinical Genetics

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Cover image for The Application of Clinical Genetics, Volume 5, 2012

The Application of Clinical Genetics, Volume 5, Issue (2012)

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The Application of Clinical Genetics, Volume 5, Issue (2012)

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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 Volume 5, 2012 Vol 4, 2011 Vol 3, 2010 Vol 2, 2009 Vol 1, 2008

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Review

Review Article

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Gregory Costain & Anne S Bassett

Pages: 1-18

Published online: 21 Feb 2012

AbstractforClinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era | Full Text | References | PDF (912.9 KB)

275 Views
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Open Access

Editorial

The application of clinical genetics

Martin H Maurer

Pages: 19-20

Published online: 23 Feb 2012

CitationforThe application of clinical genetics | Full Text | References | PDF (82.8 KB)

53 Views
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Open Access

Review

Review Article

Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

Yvonne Kiefer, Christoph Schulte, Markus Tiemann & Joern Bullerdiek

Pages: 21-28

Published online: 12 Mar 2012

AbstractforChronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation | Full Text | References | PDF (2.2 MB)

106 Views
5 CrossRef citations
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Open Access

Review Article

Gene therapy for the treatment of cystic fibrosis

Tabinda J Burney & Jane C Davies

Pages: 29-36

Published online: 29 May 2012

AbstractforGene therapy for the treatment of cystic fibrosis | Full Text | References | PDF (182 KB)

2817 Views
6 CrossRef citations
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Open Access

Review Article

Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis

Ernst Hund

Pages: 37-41

Published online: 28 Dec 2022

AbstractforFamilial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis | Full Text | References | PDF (127.3 KB)

102 Views
34 CrossRef citations
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Open Access

Review Article

Congenital protein hypoglycosylation diseases

Susan E Sparks

Pages: 43-54

Published online: 05 Jul 2012

AbstractforCongenital protein hypoglycosylation diseases | Full Text | References | PDF (263.2 KB)

71 Views
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Open Access

Original Research

Article

Association analysis of genetic variations of eNOS and α₂β₁ integrin genes with type 2 diabetic retinopathy

Rania Azmy, Ashraf Dawood, Ayman Kilany, Yasser El-Ghobashy, Amin Faisal Ellakwa & May El-Daly

Pages: 55-65

Published online: 24 Jul 2012

AbstractforAssociation analysis of genetic variations of eNOS and α₂β₁ integrin genes with type 2 diabetic retinopathy | Full Text | References | PDF (525.7 KB)

75 Views
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Open Access

Review

Review Article

The genetic basis of severe combined immunodeficiency and its variants

Diana Tasher & Ilan Dalal

Pages: 67-80

Published online: 07 Aug 2012

AbstractforThe genetic basis of severe combined immunodeficiency and its variants | Full Text | References | PDF (987.5 KB)

310 Views
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Open Access

Review Article

Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise

Cameron B Williams & Brendon J Gurd

Pages: 81-91

Published online: 29 Aug 2012

AbstractforSkeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise | Full Text | References | PDF (260.9 KB)

100 Views
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Open Access

Case Report

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Isabel Ochando, Antonio Urbano, Juana Rubio & Joaquín Rueda

Pages: 93-96

Published online: 28 Dec 2022

AbstractforClinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH | Full Text | References | PDF (423 KB)

57 Views
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Open Access

Review

Review Article

Genetics of hearing loss: focus on DFNA2

Laura M Dominguez & Kelley M Dodson

Pages: 97-104

Published online: 18 Oct 2012

AbstractforGenetics of hearing loss: focus on DFNA2 | Full Text | References | PDF (262.9 KB)

96 Views
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Open Access

Review Article

The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates

M Hammad Ather & Tahmeena Siddiqui

Pages: 105-110

Published online: 08 Nov 2012

AbstractforThe genetics of neuroendocrine prostate cancers: a review of current and emerging candidates | Full Text | References | PDF (161.2 KB)

60 Views
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Open Access

Original Research

Article

Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus

Safaa I Tayel, Heba F Khader, Nesreen G El-Helbawy & Waleed A Ibrahim

Pages: 111-118

Published online: 04 Dec 2012

AbstractforAssociation of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus | Full Text | References | PDF (395.1 KB)

50 Views
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