Biochemistry, Genetics and Molecular Biology
Genetics
93%
Chromosomal Rearrangement
83%
Haploinsufficiency
77%
Genomics
76%
Array Comparative Genomic Hybridization
75%
Candidate Gene
73%
Germ Cell
58%
Fluorescence in Situ Hybridization
54%
Intellectual Disability
51%
Chromothripsis
49%
Cytogenetics
49%
Next Generation Sequencing
48%
Exome Sequencing
46%
Germline
46%
Whole Genome Sequencing
45%
Genotyping
43%
Single-Nucleotide Polymorphism
43%
Autosomal Dominant Inheritance
40%
Chromosome Rearrangement
38%
Chromosome 14
38%
NRXN1
38%
Transcription Factor
32%
Expression Analysis
32%
Dideoxynucleotide Sequencing
32%
Gene Expression Profiling
32%
RNA
32%
Gene Expression
31%
Wild Type
30%
Real-Time Polymerase Chain Reaction
30%
Reciprocal Chromosome Translocation
30%
Non-Coding RNA
29%
Human Genome
27%
Autosomal Recessive Inheritance
25%
Trisomy
25%
Meiosis
25%
RNA Structure
25%
ZFP57
25%
SYNGAP1
25%
Gene Linkage
25%
Proband
24%
Exon
24%
Messenger RNA
22%
Reverse Transcription Polymerase Chain Reaction
21%
Body Mass
21%
Allele
20%
Derivative Chromosome
20%
Chromosomal Translocation
20%
Microdeletion Syndrome
19%
Copy-Number Variation
19%
Indel
19%
Keyphrases
Intellectual Disability
100%
Mate-pair Sequencing
70%
Haploinsufficiency
64%
Epilepsy
59%
Microcephaly
56%
Congenital Heart Disease
51%
Balanced Chromosomal Rearrangements
44%
FOXG1
38%
Next-generation Sequencing
37%
Whole Genome
36%
Balanced Translocation
36%
Obesity
35%
Single nucleotide Polymorphism
34%
Autism
33%
Sequence Analysis
33%
Quantitative PCR
33%
Germ Cells
32%
Copy number Variation
29%
Neurodevelopmental Disorders
28%
Autism Spectrum Disorder
27%
MicroRNA
27%
Absence Epilepsy
26%
Sanger Sequencing
25%
Phenotypic Spectrum
25%
SLC2A1
25%
Consanguineous
25%
Topologically Associating Domains
25%
Olfactory Dysfunction
25%
Balanced Reciprocal Translocation
25%
Pakistani Family
25%
Congenital Heart Defects
25%
Cleft Palate
25%
Congenital Anosmia
25%
Duplication
25%
Array Comparative Genomic Hybridization (aCGH)
24%
Anosmia
24%
Chromothripsis
23%
Developmental Delay
22%
Complex Chromosomal Rearrangement
22%
Expression Analysis
21%
DNA Molecule
21%
Seizure
21%
Syndromic
21%
Non-coding RNA (ncRNA)
20%
DNA Fragments
20%
Non-coding
20%
Exon
19%
Chromosome 12
19%
SLC2A1 mutation
19%
Family Members
19%