Biochemistry, Genetics and Molecular Biology
Genetics
95%
Menkes Disease
89%
Intellectual Disability
83%
Fluorescence in Situ Hybridization
55%
Candidate Gene
51%
Cytogenetics
40%
Methylation
38%
ATP7A
38%
Mosaicism
33%
Exon
32%
Genotyping
31%
Induced Pluripotent Stem Cell
30%
Array Comparative Genomic Hybridization
30%
Missense
29%
DNA Methylation
29%
Copy-Number Variation
29%
Germ Cell
23%
X Chromosome
23%
Mouse
23%
Comorbidity
20%
Single-Nucleotide Polymorphism
20%
Karyotype
19%
Germline
19%
Fibroblast
19%
Chromosomal Rearrangement
19%
Exome Sequencing
19%
Copper Metabolism
19%
Epigenetics
18%
Brain Development
18%
Postnatal Growth
17%
Prenatal Growth
17%
Gene Mutation
17%
Stem Cell Line
17%
Molecular Genetics
17%
Chromosome Rearrangement
17%
Beckwith-Wiedemann Syndrome
16%
Metabolic Pathway
15%
Genetic Risk
15%
Allele
15%
ZFP57
14%
Chromothripsis
14%
SMC1A
14%
Genetic Counseling
14%
Polymerase Chain Reaction
13%
Proband
13%
Rett Syndrome
13%
Differentially Methylated Regions
13%
Uniparental Disomy
13%
Ring Chromosome
13%
Haploinsufficiency
13%
Keyphrases
Menkes Disease
100%
Intellectual Disability
76%
Neurodevelopmental Disorders
43%
Gilles De La Tourette Syndrome
41%
Imprinting Disorders
39%
Duplication
36%
Fluorescence in Situ Hybridization
34%
Microdeletion
33%
Induced Pluripotent Stem Cells (iPSCs)
33%
Tourette Syndrome
32%
ATP7A
28%
Developmental Delay
25%
Cornelia De Lange Syndrome (CdLS)
24%
Clinical Features
22%
Copper Metabolism
22%
Autism Spectrum Disorder
21%
X-linked Disorder
21%
Silver-Russell Syndrome
20%
Menkes
20%
Interstitial Deletion
20%
ATP7A Gene
19%
Congenital Heart Disease
19%
Germ Cells
19%
Copy number Variation
19%
Stem Cell Lines
19%
Microcephaly
19%
Etiology
19%
Beckwith-Wiedemann Syndrome
18%
Array Comparative Genomic Hybridization (aCGH)
18%
Exon
18%
Molecular Genetics
18%
Dysmorphic Features
17%
Cytogenetic Analysis
17%
X Chromosome
16%
Pathogenic Variants
16%
Bardet-Biedl Syndrome
15%
Susceptibility Genes
15%
X-linked
15%
Microphthalmia
15%
Molecular Diagnostics
15%
Imprinted Loci
15%
Attention Deficit Hyperactivity Disorder
14%
Epilepsy
14%
Xq13
14%
Occipital Horn Syndrome
13%
Missense Variants
13%
Chromothripsis
13%
Chromosomal Rearrangements
13%
ZFP57
13%
Chromosome Breakage
13%
