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The Application of Clinical Genetics


Archive: Volume 10, 2017

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

Falco M, Amabile S, Acquaviva F

The Application of Clinical Genetics 2017, 10:85-94

Published Date: 3 November 2017

Primary ciliary dyskinesia: mechanisms and management

Damseh N, Quercia N, Rumman N, Dell SD, Kim RH

The Application of Clinical Genetics 2017, 10:67-74

Published Date: 19 September 2017

Maple syrup urine disease: mechanisms and management

Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS

The Application of Clinical Genetics 2017, 10:57-66

Published Date: 6 September 2017

Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

Traivaree C, Monsereenusorn C, Meekaewkunchorn A, Laoyookhong P, Suwansingh S, Boonyawat B

The Application of Clinical Genetics 2017, 10:37-41

Published Date: 21 June 2017

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

Shah PS, Shah ND, Ray HSP, Khatri NB, Vaghasia KK, Raval RJ, Shah SC, Rao MV

The Application of Clinical Genetics 2017, 10:27-35

Published Date: 11 May 2017

Mitochondrial diseases: advances and issues

Scarpelli M, Todeschini A, Volonghi I, Padovani A, Filosto M

The Application of Clinical Genetics 2017, 10:21-26

Published Date: 15 February 2017

Genetics of tuberous sclerosis complex: implications for clinical practice

Caban C, Khan N, Hasbani DM, Crino PB

The Application of Clinical Genetics 2017, 10:1-8

Published Date: 21 December 2016