Back to Journals » The Application of Clinical Genetics » Volume 8
The Application of Clinical Genetics
ISSN: 1178-704X
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- Volume 8, 2015 (24)
- Volume 7, 2014 (23)
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Archive: Volume 8, 2015

Insights into genetic susceptibility in the etiology of spontaneous preterm birth
Parets SE, Knight AK, Smith AK
The Application of Clinical Genetics 2015, 8:283-290
Published Date: 14 December 2015

Sanfilippo syndrome: causes, consequences, and treatments
Fedele AO
The Application of Clinical Genetics 2015, 8:269-281
Published Date: 25 November 2015

ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation
Pandey P, Mohammad G, Singh Y, Qadar Pasha MA
The Application of Clinical Genetics 2015, 8:257-267
Published Date: 2 November 2015

Diagnostic and treatment strategies in mucopolysaccharidosis VI
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R
The Application of Clinical Genetics 2015, 8:245-255
Published Date: 30 October 2015

The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD
The Application of Clinical Genetics 2015, 8:235-243
Published Date: 19 October 2015

Genetics of inherited primary arrhythmia disorders
Spears DA, Gollob MH
The Application of Clinical Genetics 2015, 8:215-233
Published Date: 18 September 2015

An update of clinical management of acute intermittent porphyria
Pischik E, Kauppinen R
The Application of Clinical Genetics 2015, 8:201-214
Published Date: 1 September 2015

1p36 deletion syndrome: an update
Jordan VK, Zaveri HP, Scott DA
The Application of Clinical Genetics 2015, 8:189-200
Published Date: 27 August 2015

Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis
Ma L, Bao R
The Application of Clinical Genetics 2015, 8:181-188
Published Date: 7 August 2015

Alström syndrome: current perspectives
Álvarez-Satta M, Castro-Sánchez S, Valverde D
The Application of Clinical Genetics 2015, 8:171-179
Published Date: 21 July 2015

Recent advances in gene therapy for lysosomal storage disorders
Rastall DP, Amalfitano A
The Application of Clinical Genetics 2015, 8:157-169
Published Date: 23 June 2015

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN
The Application of Clinical Genetics 2015, 8:137-155
Published Date: 16 June 2015

Hardy–Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases
Trejo S, Toscano-Flores JJ, Matute E, Ramírez-Dueñas ML
The Application of Clinical Genetics 2015, 8:133-136
Published Date: 2 June 2015

22q11 deletion syndrome: current perspective
Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K
The Application of Clinical Genetics 2015, 8:123-132
Published Date: 18 May 2015

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
Wiesinger C, Eichler FS, Berger J
The Application of Clinical Genetics 2015, 8:109-121
Published Date: 2 May 2015

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management
Leoz ML, Carballal S, Moreira L, Ocaña T, Balaguer F
The Application of Clinical Genetics 2015, 8:95-107
Published Date: 16 April 2015

Emerging pharmacologic treatment options for fragile X syndrome
Schaefer TL, Davenport MH, Erickson CA
The Application of Clinical Genetics 2015, 8:75-93
Published Date: 7 April 2015

Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion
Hall MJ, Innocent J, Rybak C, Veloski C, Scott WJ, Wu H, Ridge JA, Hoffman JP, Borghaei H, Turaka A, Daly MB
The Application of Clinical Genetics 2015, 8:69-73
Published Date: 17 February 2015

Moyamoya disease and syndromes: from genetics to clinical management
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M
The Application of Clinical Genetics 2015, 8:49-68
Published Date: 16 February 2015

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis

Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS
The Application of Clinical Genetics 2015, 8:37-48
Published Date: 30 January 2015

The genetics of familial hypercholesterolemia and emerging therapies
Vogt A
The Application of Clinical Genetics 2015, 8:27-36
Published Date: 28 January 2015

Tay-Sachs disease: current perspectives from Australia
Lew RM, Burnett L, Proos AL, Delatycki MB
The Application of Clinical Genetics 2015, 8:19-25
Published Date: 21 January 2015

The genetics of Ménière’s disease
Chiarella G, Petrolo C, Cassandro E
The Application of Clinical Genetics 2015, 8:9-17
Published Date: 8 January 2015

Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes
Johansen Taber KA, Dickinson BD
The Application of Clinical Genetics 2015, 8:1-8
Published Date: 7 January 2015