Suchergebnisse - Single nucleotide variants (SNV)

1

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

von: Paththinige, C. S.

2018, in: Lipids in health and disease

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2

Small genetic variation affecting mRNA isoforms associated with marbling and meat color in beef cattle

von: Muniz, Maria Malane Magalhães

2022, in: Functional & integrative genomics

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3

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

von: Cukier, Holly N

2014, in: Molecular autism

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4

RNA Sequencing and Genetic Disease

von: Chen, Zehua

2016, in: Current genetic medicine reports

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5

Single nucleotide variants of receptor for advanced glycation end-products (AGER) gene: is it a new opening in the risk assessment of diabetic retinopathy?—a review

von: Ahuja, Pragya

2022, in: Journal of Genetic Engineering and Biotechnology

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6

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

von: C. S. Paththinige

2018, in: Lipids in Health and Disease

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7

Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

von: Jin, Yu

2018, in: Human genomics

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8

Association of the Estrogen Receptor 1 Polymorphisms rs2046210 and rs9383590 with the Risk, Age at Onset and Prognosis of Breast Cancer

von: Heidi Miedl

2023, in: Cells

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9

Potential susceptibility genes in patients with stage III and IV periodontitis: A whole-exome sequencing pilot study

von: Fan Xue

2024, in: Biomolecules & Biomedicine

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10

Rare variants in GPR3 in POI patients: a case series with review of literature

von: Ren, Shuting

2023, in: Journal of ovarian research

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11

Finding neoepitopes in mouse models of personalized cancer immunotherapy

von: Al Seesi, Sahar

2016, in: Frontiers of biology in China

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12

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility

von: Suárez-Rama, José Javier

2015transfer abstract, in: Trends in on-site removal, treatment, and sensitive assay of common pharmaceuticals in surface waters

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13

Experimental demonstration and pan-structurome prediction of climate-associated riboSNitches in Arabidopsis

von: Ferrero-Serrano, Ángel

2022, in: Genome biology

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14

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency

von: Narissara Suratannon

2020, in: Frontiers in Immunology

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15

MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant

von: In-Pyo Baek

2014, in: Genomics & Informatics

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16

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype

von: Maria Mabyalwa Mudau

2024, in: Frontiers in Genetics

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17

Germline contamination and leakage in whole genome somatic single nucleotide variant detection

von: Sendorek, Dorota H.

2018, in: BMC bioinformatics

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18

MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data

von: Martín, Mariano

2022, in: Energy-saving improvement of heat integration for separating dilute azeotropic components in extractive distillation

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19

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

von: Marta Smyk

2023, in: Genes

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20

SomatoSim: precision simulation of somatic single nucleotide variants

von: Marwan A. Hawari

2021, in: BMC Bioinformatics

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