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Journal Article
Clinical Endocrinology, ISSN 0300-0664, 07/2014, Volume 81, Issue 1, pp. 109 - 116
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 07/2014, Volume 81, Issue 1, pp. 109 - 116
1[alpha], 25(OH).sub.2D.sub.3 (calcitriol), the active form of vitamin D, has been shown to exert antiproliferative effects in many cancers. Overexpression of... 
Carcinoma | Cytochrome P-450 | Calcifediol | Development and progression | Gene expression | Thyroid cancer | Vitamin D | Analysis | Genetic research | Genetic aspects | Alfacalcidol | Nucleotide sequencing | DNA sequencing | Cancer
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2016, Volume 53, Issue 5, p. 338
BackgroundInherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the... 
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, p. 786
BackgroundVoltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 786 - 792
Background Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
GAIN-OF-FUNCTION | EPISODIC ATAXIA TYPE-1 | GENETICS & HEREDITY | SENSORINEURAL DEAFNESS | NALCN CAUSE | CENTRAL-NERVOUS-SYSTEM | MUTATIONS | POTASSIUM CHANNEL GENE | EXPRESSION | K+ CHANNELS | FAST INACTIVATION
Journal Article
Human genomics, ISSN 1479-7364, 12/2017, Volume 11, Issue 1, pp. 33 - 33
After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the... 
Journal Article
Human Genomics, ISSN 1473-9542, 03/2017, Volume 11, Issue 1, pp. 28 - 28
Background: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of... 
Vitamin D deficiency | Dysmorphism | Mitochondrial | Syndromic | Angelman | Hypogonadism | DISEASE | GENETICS & HEREDITY | TRANSFER-RNA SYNTHETASES | FAMILY | Index Medicus
Journal Article
Journal Article
Genome Biology, ISSN 1474-7596, 06/2015, Volume 16, Issue 1, pp. 134 - 134
Journal Article
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