Keyphrases
Large Cohort Study
100%
Methyl-CpG-binding Protein 2 (MeCP2)
100%
Rett Syndrome
100%
Gene mutation
100%
Indian Females
100%
Gene Variants
22%
Gene-gene
22%
Truncating Variant
22%
Female Patients
11%
Missense Variants
11%
Sequence Variants
11%
India
11%
Gene Expression
11%
Molecular Techniques
11%
Diagnostic Test
11%
Diagnostic Criteria
11%
Neurodevelopmental Disorders
11%
Detection Rate
11%
Functional Domain
11%
Genotype-phenotype Correlation
11%
Transcriptional Repression
11%
Genetic Counseling
11%
Exon 2
11%
Sanger Sequencing
11%
Gene Sequencing
11%
Multidisciplinary Team
11%
Sequence Variation
11%
Novel Variants
11%
Severe Phenotype
11%
Bioinformatics Analysis
11%
Prenatal Testing
11%
Revised Criteria
11%
Xq28
11%
Methyl-binding Domain
11%
Repression Domain
11%
Heterogeneous Spectrum
11%
MeCP2 Protein
11%
High Detection Rate
11%
INIS
females
100%
spectra
100%
india
100%
genes
100%
proteins
100%
gene mutations
100%
patients
45%
testing
18%
detection
18%
diagnosis
18%
phenotype
18%
correlations
9%
computer codes
9%
variations
9%
assessments
9%
mutations
9%
genotype
9%
genetics
9%
transcription
9%
exons
9%
Biochemistry, Genetics and Molecular Biology
Cohort Study
100%
Rett Syndrome
100%
Binding Protein
100%
Gene Mutation
100%
Gene Expression
11%
Missense
11%
Exon
11%
Sanger Sequencing
11%
Genetic Counseling
11%
Transcription
11%
Quantitative Technique
11%
Genotype Phenotype Correlation
11%
Gene Sequence
11%
Multiplex Ligation-Dependent Probe Amplification
11%
Binding Domain
11%