Biochemistry, Genetics and Molecular Biology
Microsatellite DNA
100%
Genetics
68%
Mutation Rate
63%
Exon
51%
Exon Skipping
47%
Autosomal Dominant Inheritance
47%
RNA
47%
Epidermolysis bullosa
47%
Decision Trees
47%
Exome Sequencing
47%
Protein Modeling
47%
Candidate Gene
47%
Estrogen Receptor
47%
Genetic Test
47%
NRIP1
47%
Intellectual Disability
47%
PMS2
47%
Ribosomal Protein
47%
Genotype Phenotype Correlation
47%
Genetic Counseling
47%
Haplotype
47%
Next Generation Sequencing
47%
Genetic Screening
47%
Microsatellite Instability
43%
DNA Mismatch Repair
38%
Minigene
35%
Prevalence
28%
Bone Morphogenetic Protein Receptor Type 2
23%
Array Comparative Genomic Hybridization
23%
Reverse Transcription Polymerase Chain Reaction
23%
TBX2
23%
Intron
19%
Cell Cycle Regulation
15%
Germline Mosaicism
15%
Allele
15%
Endometrium
15%
Germline Mutation
15%
Missense Mutation
15%
Regulatory Sequence
15%
Nuclear Receptor Co-Repressor 1
15%
Microarrays
15%
Mutated Genes
15%
BRCA2
11%
Autosomal Recessive Disorder
11%
TMEM43
11%
Genetic Heterogeneity
11%
Recessive Inheritance
11%
DYRK1A
11%
CASK
11%
ASPM (Gene)
11%
Keyphrases
L1 Syndrome
94%
Diagnostic Performance
55%
Estrogen Receptor Pathway
47%
NRIP1
47%
NGS Data
47%
Targeted NGS
47%
Ribosomal Protein L22
47%
AVPR2
47%
Intronic Deletion
47%
Contiguous Gene Deletion Syndrome
47%
New Report
47%
TBX4
47%
Small Patella Syndrome
47%
Genetic mutation
47%
Copy number Variation Detection
47%
Genotype-phenotype Correlation
47%
Mutation Analysis
47%
Genetic Counseling
47%
Dutch
47%
Cardiomyopathy
47%
Metagenomic Next-generation Sequencing (mNGS)
47%
Variants of Uncertain Significance
47%
Gene Variants
47%
RNA Splice Sites
47%
Spinocerebellar Ataxia
47%
Uncertain Significance
47%
Reclassification
47%
Detection Rate
35%
Clinical Characteristics
23%
Mutation Detection
23%
Minigene Assay
18%
Alamut
18%
Next-generation Sequencing Data
18%
Segregation Studies
15%
Variant Segregation
15%
Molecular Diagnostics
13%
Large Duplication
11%
Mutation Type
11%
Coding Sequence
11%
Truncating mutation
11%
Regulatory Sequence
11%
60S Subunit
11%
Detection System
11%
Missense mutation
11%
Clinical Data
11%
Statistical Analysis
11%
L1CAM Gene
11%
X-linked Disorder
11%
Family History
11%
Unselected Patients
11%
Medicine and Dentistry
Mutation Rate
47%
Exon Skipping
47%
Gene Deletion
47%
Colorectal Tumor
47%
Endometrium Tumor
47%
Diagnosis
47%
Nephrogenic Diabetes Insipidus
47%
Diabetes Insipidus
47%
Cardiomyopathy
47%
Epidermolysis Bullosa Simplex
47%
Diabetes
47%
Ribosome Protein
47%
Vasopressin Release
23%
Vasopressin
23%
Disease
23%
Exon
21%
Sensitivity and Specificity
18%
Reverse Transcription Polymerase Chain Reaction
18%
Colorectal Cancer
11%
Ribosome
11%
Malignant Neoplasm
11%
Carcinogenesis
11%
Neoplasm
11%
Microsatellite Instability
11%
DNA Mismatch Repair
11%
Dinucleotide
9%
RNA Splicing
9%
Intron
9%
Functional Assessment
9%