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PubMed 14510914 Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. OBJECTIVE: Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to main 1.88 KB 2015-11-18 30 37
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PubMed 15018851 Comparison of sequential cytomegalovirus isolates in a patient with lymphoma and failing antiviral therapy. BACKGROUND: Long-term anti-cytomegalovirus (CMV) treatments in immunocompromised patients ar 1.61 KB 2015-11-22 40 30
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PubMed 15041272 A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were st 1.53 KB 2015-11-18 34 31
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PubMed 15069170 Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder resultin 1.81 KB 2015-11-22 41 46
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PubMed 15086325 Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees. To investigate the molecular defects in two Chinese pedigrees with inherit 1.38 KB 2015-11-22 40 20
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PubMed 15096016 Pallidal stimulation: an alternative to pallidotomy? A resurgence of interest in the surgical treatment of Parkinson's disease (PD) came with the rediscovery of posteroventral pallidotomy by Laitinen 1.33 KB 2021-12-23 24 14
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PubMed 15579441 Hypoxia in renal disease with proteinuria and/or glomerular hypertension. Despite the increasing need to identify and quantify tissue oxygenation at the cellular level, relatively few methods have bee 1.47 KB 2015-11-22 57 25
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PubMed 15754732 Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. Primary hyperparathyroidism (pHPT) is a common endocrine disease that in more 1.92 KB 2015-11-19 43 36
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PubMed 15867855 Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population. BACKGROUND: The T-cell immunoglobulin 1.71 KB 2025-10-02 46 26
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PubMed 15951966 Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. BACKGROUND: Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous chan 1.35 KB 2015-11-19 42 17
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