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Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by PROGRES (Q25/LF1) | SVV (260373) |
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Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report JOURNAL ARTICLE published December 2019 in BMC Medical Genetics Research funded by National International Scientific and Technological Cooperation Program, China (2015DFA31810) | Clinical Science and Technology Innovation Project, Shanghai, China (SHDC12015120) |
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Three allele combinations associated with Multiple Sclerosis JOURNAL ARTICLE published December 2006 in BMC Medical Genetics |
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Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study) JOURNAL ARTICLE published December 2010 in BMC Medical Genetics |
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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report JOURNAL ARTICLE published December 2020 in BMC Medical Genetics |
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Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by Provincial Department of Education “13th Five” Science and Technology Research Projects (JJKH20190193KJ) |
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Diagnosis of Noonan syndrome and related disorders using target next generation sequencing JOURNAL ARTICLE published December 2014 in BMC Medical Genetics |
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Association study of two inflammation-related polymorphisms with susceptibility to hepatocellular carcinoma: a meta-analysis JOURNAL ARTICLE published December 2014 in BMC Medical Genetics |
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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by National Key Research and Development Program of China (2018YFC1002203) |
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Associations of the hypertension-related single nucleotide polymorphism rs11191548 with high-density lipoprotein cholesterol and leptin in Chinese children JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by The National Basic Research Program of China (2013CB530605) | The National Natural Science Foundation of China (81473062) | The Beijing Health System High-Level Technical Talents Training Fund (2015-3-083) |
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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by National Health and Medical Research Council (APP1024215,APP1023059) | Cancer Council SA (PRF0517) |
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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand JOURNAL ARTICLE published December 2019 in BMC Medical Genetics |
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The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by National Natural Science Foundation of China (81771493) | National Institute on Aging (R01AG036042) |
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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report JOURNAL ARTICLE published December 2018 in BMC Medical Genetics Research funded by National Human Genome Research Institute (Intramural Research Program) |
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Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family JOURNAL ARTICLE published December 2008 in BMC Medical Genetics |
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Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874 JOURNAL ARTICLE published December 2015 in BMC Medical Genetics Research funded by Arthritis Research UK (GB) (20231) | Seventh Framework Programme (BE) (305815) |
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Frequency of common HFEvariants in the Saudi population: a high throughput molecular beacon-based study JOURNAL ARTICLE published December 2006 in BMC Medical Genetics |
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Effect of TNF-α genetic variants and CCR5Δ32 on the vulnerability to HIV-1 infection and disease progression in Caucasian Spaniards JOURNAL ARTICLE published December 2010 in BMC Medical Genetics |
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p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies JOURNAL ARTICLE published December 2020 in BMC Medical Genetics Research funded by HBNU Fellowship Fogarty International Center and the National Institutes (D43 TW010543) |
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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients JOURNAL ARTICLE published December 2020 in BMC Medical Genetics |