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The Application of Clinical Genetics


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

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

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

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 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

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