Biochemistry, Genetics and Molecular Biology
Next Generation Sequencing
100%
Genetics
69%
Array Comparative Genomic Hybridization
64%
Exome Sequencing
51%
Genetic Screening
47%
Haploinsufficiency
43%
Mosaicism
41%
Human Genetics
37%
Trisomy
35%
Karyotyping
33%
Single-Nucleotide Polymorphism
32%
Cytogenetics
31%
Prevalence
31%
Microdeletion Syndrome
27%
Candidate Gene
24%
Body Height
24%
Indel
22%
RNA
20%
Fluorescence in Situ Hybridization
19%
Preimplantation Embryo
19%
Problem Behavior
19%
Newborn Screening
19%
Screening Test
19%
Microsatellite DNA
19%
Turnaround Time
18%
Exon
17%
Chromosomal Aberration
17%
Myeloid
17%
Trisomy 18
16%
Genetic Test
14%
Retrospective Study
14%
Chromosome Rearrangement
14%
Prospective Study
14%
Chorion Villus
14%
Intellectual Disability
14%
Reciprocal Chromosome Translocation
14%
Genotyping
14%
Trisomy 21
13%
Sanger Sequencing
13%
Whole Genome Sequencing
13%
Preimplantation
13%
Copy-Number Variation
13%
Comparative Genomic Hybridization
13%
Subtelomere
12%
Fusion Gene
12%
Telomere
11%
Lymphocyte Culture
11%
Allele
11%
Developmental Stage
11%
Gene Fusion
11%
Medicine and Dentistry
Diagnosis
31%
Congenital Malformation
22%
Disease
20%
Clinical Feature
19%
Short Stature
19%
Trisomy
17%
Trisomy 21
13%
Trisomy 18
13%
Hearing Impairment
13%
Cancer
13%
Next Generation Sequencing
12%
Cell-Free DNA
12%
Trisomy 13
11%
Exome Sequencing
10%
Mosaicism
10%
Sensitivity and Specificity
10%
Metabolic Disorder
9%
Newborn Screening
9%
Disorders of Sex Development
9%
Chromosome Rearrangement
9%
Prospective Study
9%
Urogenital Tract Malformation
9%
Diagnostic Test
9%
Syndrome CHARGE
9%
Allotransplantation
9%
Acute Myeloid Leukemia
9%
Dyschondrosteosis
9%
Failure to Thrive
9%
Cardiomyopathy
9%
Congenital Heart Defect
9%
Myoclonic Astatic Epilepsy
9%
Facies
9%
Chorion Villus
9%
Preimplantation Embryo
9%
Clinician
9%
Haploinsufficiency
9%
Developmental Stage
9%
Developmental Delay
9%
Glucocorticoid
9%
Nicotinamide Adenine Dinucleotide (Phosphate) Transhydrogenase
9%
Prenatal Diagnosis
9%
Fetus Echography
9%
Screening Test
9%
Amnion Fluid
9%
Fusion Gene
9%
Droplet Digital Polymerase Chain Reaction
9%
Minimal Residual Disease
9%
Leukemia
9%
Cell-Free DNA Testing
9%
Cross Sectional Study
9%
Keyphrases
Next-generation Sequencing
31%
Newborn Screening
29%
Dutch
24%
Variants of Uncertain Significance
20%
Diagnostic Performance
14%
Inherited Metabolic Diseases
13%
Metagenomic Next-generation Sequencing (mNGS)
13%
Sanger Sequencing
13%
Array Analysis
12%
Clinical Diagnostics
12%
Copy number Gain
11%
Treatability
11%
Routine Diagnostics
10%
Systematic Evaluation
9%
Isodicentric Chromosome
9%
16q24.3 Microdeletion
9%
Chromosomal Instability
9%
Temporal Stages
9%
Tripronuclear
9%
Mitotic Errors
9%
Balanced Reciprocal Translocation
9%
Lymphocyte Culture
9%
Children with Down Syndrome
9%
Flask Method
9%
Probability Tables
9%
Genome-wide Array Analysis
9%
Live Birth
9%
Madelung Deformity
9%
GNAS Gene
9%
STX1B
9%
Laryngomalacia
9%
POMGNT1
9%
Insertional Translocation
9%
15q11.2
9%
Mutational Mechanism
9%
Breakpoint Regions
9%
Chromosomal Mosaicism
9%
Netherlands
9%
Variation Reduction
9%
XY Sex Reversal
9%
Nablus Mask-like Facial Syndrome
9%
NR5A1 Gene
9%
46 XY Female
9%
Practical Guidelines
9%
16p11.2 Deletion
9%
Myhre Syndrome
9%
DDX41
9%
Chromosome 7q
9%
Proximity Ligation
9%
Targeted Locus Amplification
9%
