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  • 1-10 of  11 results for ""DNA Mutational Analysis""

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Academic Journal

A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations

Subjects: Heterozygote [MeSH]; Endocardial Fibroelastosis/pathology [MeSH]; Endomyocardial fibroelastosis

  • Source: http://lobid.org/resources/99370673696706441#!, 21(1):174.

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Academic Journal

Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy

Subjects: Phenprocoumon/adverse effects [MeSH]; Anticoagulants/adverse effects [MeSH]; Mutation [MeSH]

  • Source: http://lobid.org/resources/99370670379406441#!, 26(1):63.

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Academic Journal

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

Subjects: Gene Deletion [MeSH]; Neurofibromatosis 1/genetics [MeSH]; Metabolic Diseases

  • Source: http://lobid.org/resources/99370671251406441#!, 140(12):1635-1649.

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Academic Journal

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

Subjects: Microtubule-Associated Proteins/chemistry [MeSH]; Neurodevelopmental Disorders/diagnosis [MeSH]; Structure-Activity Relationship [MeSH]

  • Source: http://lobid.org/resources/99370674607706441#!, 66(12):1159-1167.

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Academic Journal

Pulmonary vein isolation treats symptomatic AF in a patient with Lamin A/C mutation: case report and review of the literature

Subjects: Pulmonary vein isolation; Female [MeSH]; Lamin Type A/metabolism [MeSH]

  • Source: http://lobid.org/resources/99370674986806441#!, 109(8):1070-1075.

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Academic Journal

EGFR and BRAF mutations in inverted sinonasal papilloma — a more complex landscape?

Subjects: Genetic Predisposition to Disease [MeSH]; Female [MeSH]; Mutation [MeSH]

  • Source: http://lobid.org/resources/99370678540206441#!, 478(5):915-924.

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Academic Journal

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia

Subjects: Smith-Magenis Syndrome/epidemiology [MeSH]; Aged; 80 and over [MeSH]

  • Source: http://lobid.org/resources/99370678538206441#!, 99(7):1551-1560.

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Academic Journal

Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1

Subjects: DNA Methylation/genetics [MeSH]; Disease Progression [MeSH]; Meningioma/genetics [MeSH]

  • Source: http://lobid.org/resources/99370675016306441#!, 141(2):281-290.

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Academic Journal

Cancer research using organoid technology

Subjects: Stem Cell Research [MeSH]; Cancer; Organoids/drug effects [MeSH]

  • Source: http://lobid.org/resources/99370678534106441#!, 99(4):501-515.

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Academic Journal

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Subjects: Female [MeSH]; Lower Extremity Deformities; Congenital/genetics [MeSH]

  • Source: http://lobid.org/resources/99370674607706441#!, 65(11):1003-1017.

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  • 1-10 of  11 results for ""DNA Mutational Analysis""