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The Application of Clinical Genetics
ISSN: 1178-704X
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Archive: Volume 10, 2017
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
Rubin BY, Anderson SL
The Application of Clinical Genetics 2017, 10:95-103
Published Date: 15 December 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
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing
Velasco HM, Morales JL
The Application of Clinical Genetics 2017, 10:75-83
Published Date: 7 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
Treating EGFR mutation resistance in non-small cell lung cancer – role of osimertinib
Mazza V, Cappuzzo F
The Application of Clinical Genetics 2017, 10:49-56
Published Date: 26 July 2017
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
Das AM
The Application of Clinical Genetics 2017, 10:43-48
Published Date: 24 July 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
Update on the clinical management of Wilson's disease
Hedera P
The Application of Clinical Genetics 2017, 10:9-19
Published Date: 13 January 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