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The Application of Clinical Genetics
ISSN: 1178-704X
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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
Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
Su K, Donaldson E, Sharma R
The Application of Clinical Genetics 2016, 9:157-167
Published Date: 17 October 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
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population
Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD
The Application of Clinical Genetics 2016, 9:141-146
Published Date: 31 August 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
Utilization of genetic testing among children with developmental disabilities in the United States
Kiely B, Vettam S, Adesman A
The Application of Clinical Genetics 2016, 9:93-100
Published Date: 11 July 2016
Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
Gammon A, Jasperson K, Champine M
The Application of Clinical Genetics 2016, 9:83-92
Published Date: 13 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
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research
Zhou W, Wang Y
The Application of Clinical Genetics 2016, 9:5-13
Published Date: 2 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