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The Application of Clinical Genetics


Archive: Volume 12, 2019

Pharmacogenetics of alcohol addiction: current perspectives

Zastrozhin MS, Skryabin VY, Miroshkin SS, Bryun EA, Sychev DA

The Application of Clinical Genetics 2019, 12:131-140

Published Date: 11 July 2019

Barth syndrome: mechanisms and management

Finsterer J

The Application of Clinical Genetics 2019, 12:95-106

Published Date: 5 June 2019

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry

Eneli I, Xu J, Webster M, McCagg A, Van Der Ploeg L, Garfield AS, Estrada E

The Application of Clinical Genetics 2019, 12:87-93

Published Date: 5 June 2019

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus

Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F

The Application of Clinical Genetics 2019, 12:79-86

Published Date: 5 June 2019

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease

Pirazzi C, Håkansson L, Gustafsson C, Omerovic E, Wiklund O, Mancina RM

The Application of Clinical Genetics 2019, 12:71-78

Published Date: 24 May 2019

Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population

Eaaswarkhanth M, Melhem M, Sharma P, Nizam R, Al Madhoun A, Chaubey G, Alsmadi O, AlOzairi E, Al-Mulla F

The Application of Clinical Genetics 2019, 12:63-70

Published Date: 24 May 2019

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

Salomon O, Barel O, Eyal E, Shnerb Ganor R, Kleinbaum Y, Shohat M

The Application of Clinical Genetics 2019, 12:27-33

Published Date: 28 February 2019

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H

The Application of Clinical Genetics 2019, 12:19-25

Published Date: 12 February 2019

Genetics of COPA syndrome

Kumrah R, Mathew B, Vignesh P, Singh S, Rawat A

The Application of Clinical Genetics 2019, 12:11-18

Published Date: 8 February 2019

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

Mancina RM, Ferri F, Farcomeni A, Molinaro A, Maffongelli A, Mischitelli M, Poli E, Parlati L, Burza MA, De Santis A, Attilia F, Rotondo C, Rando MM, Attilia ML, Ceccanti M, Ginanni Corradini S

The Application of Clinical Genetics 2019, 12:1-10

Published Date: 10 January 2019