Biochemistry, Genetics and Molecular Biology
Intellectual Disability
100%
Exome Sequencing
56%
Missense
44%
Body Height
40%
Mosaicism
32%
Proband
32%
Haploinsufficiency
28%
Genetics
22%
Exon
19%
Genome Sequencing
19%
Zebra Fish
18%
Genetic Disorder
17%
Uniparental Disomy
17%
Missense Mutation
16%
Tetrasomy
15%
Isochromosome
15%
Cohesin
15%
SNP Array
14%
Genotyping
13%
Transcription Factors
13%
Germ Cell
13%
Germline
13%
Candidate Gene
12%
EP300
12%
Diptera
11%
Fibroblast
10%
Dynamics
10%
Congenital Disorder of Glycosylation
10%
Prader-Willi Syndrome
10%
Multiplex Polymerase Chain Reaction
10%
Marker Chromosome
10%
Liquid Chromatography
10%
Chromosome Marker
10%
Loss of Function Mutation
10%
RNA
10%
Next Generation Sequencing
8%
Exome Sequencing
8%
Transcriptome
8%
Genetic Screening
8%
Enhancer Region
8%
Computer Model
7%
Genetic Test
7%
Denaturing High Performance Liquid Chromatography
7%
Human Genetics
7%
Observational Study
7%
Autosomal Dominant Inheritance
7%
Serine
7%
Guanine Nucleotide Exchange Factor
7%
Genomics
7%
Genetic Transcription
7%
Keyphrases
Pallister-Killian Syndrome
36%
Neurodevelopmental Disorders
31%
Developmental Delay
25%
Exome Sequencing
20%
Intellectual Disability
19%
Proband
14%
Gain-of-function mutation
14%
Loss Function
11%
Hypotonia
11%
Multisystem
10%
Pierre Robin Sequence
10%
Children's Hospital
10%
Kabuki Syndrome
10%
Genome Sequencing
9%
Syndromic
9%
Missense Variants
8%
Retrospective Chart Review
7%
Supernumerary Marker Chromosome
7%
Molecular Diagnostics
6%
Biallelic Variants
6%
Dominant Negative
6%
Autism
6%
Genetic Diagnosis
6%
Phenotypic Spectrum
6%
Haploinsufficiency
6%
Clinical Characteristics
5%
Neurocognitive Development
5%
Syndromic Neurodevelopmental Disorder
5%
Developmental Disorders
5%
Gene Curation
5%
Electrospray Ionization Quadrupole Time-of-flight Mass Spectrometry
5%
Developmental Characteristics
5%
Diagnostic Performance
5%
Miller-Dieker Syndrome
5%
Cardiac Manifestations
5%
Binding Protein
5%
Heterochromatin Proteins
5%
Germ Cells
5%
Structural Brain Abnormalities
5%
Correlation Mechanism
5%
MYH7
5%
ACTN2
5%
Heterogeneous nuclear Ribonucleoprotein C
5%
QRICH1
5%
Chromosome 20
5%
ARCN1
5%
Craniofrontonasal Syndrome
5%
EFNB1
5%
Super Elongation Complex
5%
DAGLĪ±
5%
Medicine and Dentistry
Disease
37%
Pallister Killian Syndrome
36%
Diagnosis
20%
Developmental Delay
20%
Next Generation Sequencing
13%
Hypotonia
13%
Pediatrics
12%
Short Stature
11%
Congenital Heart Defect
10%
Kabuki Syndrome
10%
Clinical Feature
9%
Exome Sequencing
9%
Pierre Robin Syndrome
8%
Symptom
8%
Rubinstein-Taybi Syndrome
7%
Genetic Disorder
7%
Alopecia Mucinosa
6%
Dysmorphic Feature
6%
Diseases
6%
Genetic Screening
6%
Differential Diagnosis
6%
Missense Mutation
6%
Mosaicism
6%
Haploinsufficiency
6%
Molecular Diagnosis
5%
Heart Failure
5%
Hypertrophic Cardiomyopathy
5%
Clinician
5%
Gene Deletion
5%
Microcephaly
5%
Coat Protein Complex I
5%
Miller Dieker Syndrome
5%
Fibroblast Cell Line
5%
Syndrome VATER
5%
Meta-Analysis
5%
Ichthyosis
5%
Liver Dysfunction
5%
MYH7
5%
Hepatoblastoma
5%
Human Genetics
5%
Systematic Review
5%
Photophobia
5%
Medicine
5%
Brain Abnormalities
5%
Hope
5%
Craniofacial Synostosis
5%
Complex Congenital Heart Disease
5%
Acute Febrile Encephalopathy
5%
Cataract
5%
Prenatal Diagnosis
5%
