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Advanced Search Results For "QH426-470"

1 - 10 of 73,880 results for
 "QH426-470"
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Designing In-House SARS-CoV-2 RT-qPCR Assay for Variant of Concerns

Publication Type:Academic Journal

Source(s):Global Medical Genetics, Vol 09, Iss 03, Pp 252-257 (2022)

Abstract:Variants (Alfa, Gamma, Beta, and Delta) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are circulating worldwide. These variants of concerns share some common mutations but they also have distinguishing mutations. These mutations affec...

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Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

Publication Type:Academic Journal

Source(s):Global Medical Genetics, Vol 09, Iss 03, Pp 247-251 (2022)

Abstract:We reported the case of acute encephalopathy related to colonic acid treatment interruption in a 12-year-old female child presenting to our unit with episodes of vomiting, headache, irritability, acute confusional state, seizures, and left lower limb h...

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Role of Molecular Targeted Therapeutic Drugs in Treatment of Oral Squamous Cell Carcinoma: Development and Current Strategies—A Review Article

Publication Type:Academic Journal

Source(s):Global Medical Genetics, Vol 09, Iss 03, Pp 242-246 (2022)

Abstract:Because of active advancement in the field of biomedicine, people have in-depth knowledge of biological nature of malignant tumors and are able to recognized the overexpression of different molecules such as vascular endothelial growth factor receptor,...

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In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population

Publication Type:Academic Journal

Source(s):Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-10 (2022)

Abstract:Abstract Background 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this study was to collect all PTS gene variants detected among Iranian patients with PTPS deficiency ...

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Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship

Publication Type:Academic Journal

Source(s):Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-6 (2022)

Abstract:Abstract Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship. Case presentation A female patient aged 18 years,...

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A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Publication Type:Academic Journal

Source(s):BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)

Abstract:Abstract Background Leber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision, nystagmus, and sluggish or absent pupillary responses. To date, the pathogenesis of LCA rem...

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Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

Publication Type:Academic Journal

Source(s):BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)

Abstract:Abstract Background The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the SMPD1 gene. NPDB wi...

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Precision medicine from a citizen perspective: a survey of public attitudes towards pharmacogenomics in Flanders

Publication Type:Academic Journal

Source(s):BMC Medical Genomics, Vol 15, Iss S3, Pp 1-10 (2022)

Abstract:Abstract Background Personalized medicine is an emerging field, aiming to improve the safety and efficacy of pharmacotherapy. The field’s implementation in clinical care is steadily increasing. Pharmacogenomics are one example of personalized approache...

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KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells

Publication Type:Academic Journal

Source(s):BMC Medical Genomics, Vol 15, Iss 1, Pp 1-13 (2022)

Abstract:Abstract Background This study attempted to verify the potential of KCNJ14 as a biomarker in colorectal cancer (CRC). Methods Data on transcriptomics and DNA methylation and the clinical information of CRC patients were downloaded from The Cancer Genom...

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Quality control recommendations for RNASeq using FFPE samples based on pre-sequencing lab metrics and post-sequencing bioinformatics metrics

Publication Type:Academic Journal

Source(s):BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)

Abstract:Abstract Background Formalin-fixed, paraffin-embedded (FFPE) tissues have many advantages for identification of risk biomarkers, including wide availability and potential for extended follow-up endpoints. However, RNA derived from archival FFPE samples...

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