Works matching IS 1178704X AND DT 2015 AND VI 8
Results: 24
The genetics of familial hypercholesterolemia and emerging therapies.
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- Application of Clinical Genetics, 2015, v. 8, p. 27, doi. 10.2147/TACG.S44315
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- Article
Tay-Sachs disease: current perspectives from Australia.
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- Application of Clinical Genetics, 2015, v. 8, p. 19, doi. 10.2147/TACG.S49628
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- Article
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.
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- Application of Clinical Genetics, 2015, v. 8, p. 37, doi. 10.2147/TACG.S51064
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The genetics of Ménière's disease.
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- Application of Clinical Genetics, 2015, v. 8, p. 9, doi. 10.2147/TACG.S59024
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Insights into genetic susceptibility in the etiology of spontaneous preterm birth.
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- Application of Clinical Genetics, 2015, v. 8, p. 283, doi. 10.2147/TACG.S58612
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ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation.
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- Application of Clinical Genetics, 2015, v. 8, p. 257, doi. 10.2147/TACG.S90215
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- Article
Sanfilippo syndrome: causes, consequences, and treatments.
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- Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672
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The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.
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- Application of Clinical Genetics, 2015, v. 8, p. 235, doi. 10.2147/TACG.S69969
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Diagnostic and treatment strategies in mucopolysaccharidosis VI.
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- Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650
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Genetics of inherited primary arrhythmia disorders.
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- Application of Clinical Genetics, 2015, v. 8, p. 215, doi. 10.2147/TACG.S55762
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An update of clinical management of acute intermittent porphyria.
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- Application of Clinical Genetics, 2015, v. 8, p. 201, doi. 10.2147/TACG.S48605
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Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.
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- Application of Clinical Genetics, 2015, v. 8, p. 181, doi. 10.2147/TACG.S68635
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- Article
1p36 deletion syndrome: an update.
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- Application of Clinical Genetics, 2015, v. 8, p. 189, doi. 10.2147/TACG.S65698
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Alström syndrome: current perspectives.
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- Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612
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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.
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- Application of Clinical Genetics, 2015, v. 8, p. 133, doi. 10.2147/TACG.S74300
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- Article
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.
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- Application of Clinical Genetics, 2015, v. 8, p. 137, doi. 10.2147/TACG.S60472
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Recent advances in gene therapy for lysosomal storage disorders.
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- Application of Clinical Genetics, 2015, v. 8, p. 157, doi. 10.2147/TACG.S57682
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- Article
22q11 deletion syndrome: current perspective.
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- Application of Clinical Genetics, 2015, v. 8, p. 123, doi. 10.2147/TACG.S82105
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The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
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- Application of Clinical Genetics, 2015, v. 8, p. 109, doi. 10.2147/TACG.S49590
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- Article
The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.
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- Application of Clinical Genetics, 2015, v. 8, p. 95, doi. 10.2147/TACG.S51484
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- Article
Emerging pharmacologic treatment options for fragile X syndrome.
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- Application of Clinical Genetics, 2015, v. 8, p. 75, doi. 10.2147/TACG.S35673
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- Article
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.
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- Application of Clinical Genetics, 2015, v. 8, p. 69, doi. 10.2147/TACG.S72223
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Moyamoya disease and syndromes: from genetics to clinical management.
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- Application of Clinical Genetics, 2015, v. 8, p. 49, doi. 10.2147/TACG.S42772
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Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes.
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- Application of Clinical Genetics, 2015, v. 8, p. 1, doi. 10.2147/TACG.S75583
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- Article