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The Application of Clinical Genetics

ISSN Print: 1178-704X

ISSN Online:

主页: https://www.dovepress.com/the-application-of-clinical-genetics-journal

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Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

Hsiao PY, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

Hsiao PY,Tien HC,Lo CP,Juang JM

Genetic basis of cohesinopathies

Barbero JL

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

Williams CB, Gurd BJ

Genetics of hearing loss: focus on DFNA2

Dominguez LM, Dodson KM

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

Costain G, Bassett AS

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

Ochando I, Urbano A, Rubio J, Rueda J

Association analysis of genetic variations of eNOS and α2 1 integrin genes with type 2 diabetic retinopathy

Azmy R, Dawood A, Kilany A, El-Ghobashy Y, Ellakwa AF, El-Daly M

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

Ather MH, Siddiqui T

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

Tayel SI, Khader HF, El-Helbawy NG, Ibrahim WA

Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

Kiefer Y, Schulte C, Tiemann M, Bullerdiek J

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

Hund E

The genetic basis of severe combined immunodeficiency and its variants

Tasher D, Dalal I

The Application of Clinical Genetics

Maurer MH

Congenital protein hypoglycosylation diseases

Sparks SE

Gene therapy for the treatment of cystic fibrosis

Burney TJ, Davies JC

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

Hund E

The genetic basis of severe combined immunodeficiency and its variants

Tasher D,Dalal I

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

Costain G,Bassett AS

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

Ather MH,Siddiqui T

Genetics of hearing loss: focus on DFNA2

Dominguez LM,Dodson KM

The Application of Clinical Genetics

Maurer MH

Congenital protein hypoglycosylation diseases

Sparks SE

Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

Kiefer Y,Schulte C,Tiemann M,Bullerdiek J

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

Ochando I,Urbano A,Rubio J,Rueda J

Gene therapy for the treatment of cystic fibrosis

Burney TJ,Davies JC

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

Tayel SI,Khader HF,El-Helbawy NG,Ibrahim WA

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

Williams CB,Gurd BJ

Association analysis of genetic variations of eNOS and α2ß1 integrin genes with type 2 diabetic retinopathy

Azmy R,Dawood A,Kilany A,El-Ghobashy Y

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

Eugen Dhimolea

Inherited and acquired alterations in development of breast cancer

Rizzolo P, Silvestri V, Falchetti M, Ottini L

The genetics of breast cancer: risk factors for disease

Andrew Collins, Ioannis Politopoulos

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, et al

Identifying the genetic components underlying the pathophysiology of movement disorders

Ezquerra M, Compta Y, Marti MJ

Genetic variations and associated pathophysiology in the management of epilepsy

Mulley JC, Dibbens LM

Genetic evidence linking lung cancer and COPD: a new perspective

Young RP, Hopkins RJ, Gamble GD, Etzel C, El-Zein R, Crapo JD

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

Young RP, Hopkins RJ, Hay BA, Gamble GD

Alpha1-antitrypsin deficiency: a clinical-genetic overview

Abboud RT, Nelson TN, Jung B, Mattman A

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

Steve D Wilton, Sue Fletcher

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

Farra C, Yunis K, Yazbeck N, Majdalani M, Charafeddine L, Wakim R, Awwad J

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

Ah Mew N, Caldovic L

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

Fabricio F Costa, Luciano S Foly, Marcelo P Coutinho

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

Schulte C, Gasser T

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

Eugen Dhimolea

Genetic evidence linking lung cancer and COPD: a new perspective

Young RP,Hopkins RJ,Gamble GD,Etzel C

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

Ah Mew N,Caldovic L

Identifying the genetic components underlying the pathophysiology of movement disorders

Ezquerra M,Compta Y,Marti MJ

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

Fabricio F Costa,Luciano S Foly,Marcelo P Coutinho

Alpha1-antitrypsin deficiency: a clinical-genetic overview

Abboud RT,Nelson TN,Jung B,Mattman A

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

Steve D Wilton,Sue Fletcher

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