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The Application of Clinical Genetics


Archive: Volume 9, 2016

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

Lane AM, McKay JT, Bonkovsky HL

The Application of Clinical Genetics 2016, 9:179-189

Published Date: 12 December 2016

Analysis of binary responses with outcome-specific misclassification probability in genome-wide association studies

Rekaya R, Smith S, Hay EH, Farhat N, Aggrey SE

The Application of Clinical Genetics 2016, 9:169-177

Published Date: 30 November 2016

The genetics of uveal melanoma: current insights

Helgadottir H, Höiom V

The Application of Clinical Genetics 2016, 9:147-155

Published Date: 6 September 2016

ROCK2 and MYLK variants and high-altitude pulmonary edema

Sikri G, Bhattachar S

The Application of Clinical Genetics 2016, 9:137-139

Published Date: 2 August 2016

The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women

Maia J, Silva AS, Carmo RF, Mendonça TF, Griz LH, Moura P, Bandeira F

The Application of Clinical Genetics 2016, 9:131-136

Published Date: 1 August 2016

Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype

Geier DA, Kern JK, Sykes LK, Geier MR

The Application of Clinical Genetics 2016, 9:121-129

Published Date: 28 July 2016

Animal models of GM2 gangliosidosis: utility and limitations

Lawson CA, Martin DR

The Application of Clinical Genetics 2016, 9:111-120

Published Date: 20 July 2016

Mevalonate kinase deficiency: current perspectives

Favier LA, Schulert GS

The Application of Clinical Genetics 2016, 9:101-110

Published Date: 20 July 2016

Alagille syndrome: clinical perspectives

Saleh M, Kamath BM, Chitayat D

The Application of Clinical Genetics 2016, 9:75-82

Published Date: 30 June 2016

Role of elosulfase alfa in mucopolysaccharidosis IVA

Regier DS, Tanpaiboon P

The Application of Clinical Genetics 2016, 9:67-74

Published Date: 14 June 2016

Marfan syndrome: current perspectives

Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S

The Application of Clinical Genetics 2016, 9:55-65

Published Date: 9 May 2016

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S

The Application of Clinical Genetics 2016, 9:49-53

Published Date: 2 May 2016

Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome

Marshall-Gradisnik S, Huth T, Chacko A, Johnston S, Smith P, Staines D

The Application of Clinical Genetics 2016, 9:39-47

Published Date: 31 March 2016

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants

Sánchez K, de Mendonca E, Matute X, Chaustre I, Villalón M, Takiff H

The Application of Clinical Genetics 2016, 9:33-38

Published Date: 8 March 2016

Emery–Dreifuss muscular dystrophy: a test case for precision medicine

Pillers DAM, Von Bergen NH

The Application of Clinical Genetics 2016, 9:27-32

Published Date: 24 February 2016

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F

The Application of Clinical Genetics 2016, 9:15-26

Published Date: 4 February 2016

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

Hatter AD, Soler DC, Curtis C, Cooper KD, McCormick TS

The Application of Clinical Genetics 2016, 9:1-4

Published Date: 13 January 2016