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PubMed 11397871 Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. Several point mutations in the GnRH receptor gene 3.06 KB 2015-11-17 4 34
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PubMed 16186355 Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. PURPOSE: The purpose of this study was to identify genetic 1.28 KB 2015-11-22 3 6
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PubMed 24108782 The association between MTHFR 677C>T genotype and folate status and genomic and gene-specific DNA methylation in the colon of individuals without colorectal neoplasia. BACKGROUND: Decreased genomic an 1.96 KB 2015-11-26 5 3
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PubMed 9593380 Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. OBJECTIVE: The purpose of the stud 3.1 KB 2017-09-04 7 3
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PubMed 24018213 Missense variants in CR1 are associated with increased risk of Alzheimer' disease in Han Chinese. Complement receptor 1 (CR1) has been considered to play an important role in late-onset Alzheimer's di 1.5 KB 2025-10-02 7 12
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PubMed 26343600 TCF4 gene polymorphism is associated with cognition in patients with schizophrenia and healthy controls. BACKGROUND: Cognitive deficits have been identified as an important core feature of schizophren 2.14 KB 2025-10-02 6 8
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PubMed 19697366 Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. The aims of th 1.22 KB 2015-11-25 9 3
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PubMed 23807288 Generation of iPS cells from normal and malignant hematopoietic cells. Induced pluripotent stem cells (iPSCs) can be generated from various types of cells with transduction of defined transcription fa 1003 Bytes 2015-11-26 6 5
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PubMed 18555673 The effect of WNT5B IVS3C>G on the susceptibility to type 2 diabetes in UK Caucasian subjects. BACKGROUND AND AIMS: The wnt signaling pathway regulates adipogenesis and insulin secretion. The WNT5B ge 1.69 KB 2025-10-02 6 5
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PubMed 18065518 Analysis of single nucleotide polymorphisms identifies major type 1A diabetes locus telomeric of the major histocompatibility complex. OBJECTIVE: HLA-DRB1*03-DQB1*0201/DRB1*04-DQB1*0302 (DR3/4-DQ8) si 1.58 KB 2025-10-02 6 5
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