Biochemistry, Genetics and Molecular Biology
Genetics
98%
Intellectual Disability
86%
Candidate Gene
59%
Array Comparative Genomic Hybridization
57%
Induced Pluripotent Stem Cell
57%
Fluorescence in Situ Hybridization
50%
Rett Syndrome
48%
Menkes Disease
46%
Methylation
46%
Genotyping
44%
Gene Mutation
43%
Single-Nucleotide Polymorphism
42%
Cytogenetics
40%
Karyotype
36%
Chromosome Rearrangement
36%
Copy-Number Variation
34%
ZFP57
34%
Mosaicism
34%
Stem Cell Line
32%
Chromothripsis
30%
Prenatal Growth
29%
ATP7A
29%
Germ Cell
29%
Comorbidity
28%
Proband
28%
Growth, Development and Aging
28%
Metabolic Pathway
28%
Chromosomal Rearrangement
28%
Chromosomal Abnormalities
27%
Germline
27%
Ring Chromosome
27%
Exome Sequencing
26%
RAD21
26%
Haploinsufficiency
25%
Genetic Counseling
25%
Nonsense Mutation
24%
Molecular Genetics
23%
Postnatal Growth
23%
DNA Sequence
23%
Beckwith-Wiedemann Syndrome
23%
Chromosomal Translocation
22%
Genomics
21%
X Chromosome
20%
X-Inactivation
19%
Gene Expression
19%
Autosomal Recessive Inheritance
17%
Epimutation
17%
SMC1A
17%
Uniparental Disomy
17%
Enhancer Region
17%
Keyphrases
Intellectual Disability
100%
Imprinting Disorders
55%
Tourette Syndrome
46%
Induced Pluripotent Stem Cells (iPSCs)
46%
Autism Spectrum Disorder
44%
Rett Syndrome
42%
Methyl-CpG-binding Protein 2 (MeCP2)
36%
Silver-Russell Syndrome
34%
International Consensus
34%
Consensus Statement
34%
Beckwith-Wiedemann Syndrome
34%
Duplication
34%
Developmental Delay
33%
Microphthalmia
33%
Molecular Diagnostics
32%
Dysmorphic Features
31%
Anophthalmia
27%
Denmark
27%
Stem Cell Lines
26%
Association Study
25%
Etiology
25%
Clinical Features
24%
Imprinted Loci
24%
Microcephaly
23%
Menkes Disease
23%
Microdeletion
23%
Congenital Heart Disease
23%
First International
23%
Congenital Heart Defects
23%
Bardet-Biedl Syndrome
23%
Cornelia De Lange Syndrome (CdLS)
23%
ZFP57
23%
Male Patients
22%
Clinical Diagnosis
22%
X-inactivation
21%
Interstitial Deletion
21%
Autism
21%
Array Comparative Genomic Hybridization (aCGH)
20%
Compound Heterozygous mutation
20%
Female Patients
19%
Normal Karyotype
18%
Schizophrenia
18%
Copy number Variation
18%
Chromosome Rearrangement
17%
Subtelomeric
17%
Differentially Methylated Regions
17%
RAD21
16%
KCNQ3
16%
Recent Advances
16%
Facial Features
16%
