Biochemistry, Genetics and Molecular Biology
Intellectual Disability
100%
Exome Sequencing
49%
Exome
48%
Exon
48%
Allele
47%
Haploinsufficiency
38%
Missense
36%
Genetics
35%
Missense Mutation
28%
Body Height
26%
Germ Cell
26%
Germline
26%
Zebra Fish
26%
Methylation
24%
Genotyping
23%
Induced Pluripotent Stem Cell
22%
Gene Mutation
21%
Dysplasia
21%
Pedigree
18%
Mouse
18%
Autosomal Recessive Inheritance
18%
Candidate Gene
18%
Infancy
17%
CHD7
16%
Wild Type
16%
Bone Morphogenetic Protein
16%
Prader-Willi Syndrome
16%
Angelman Syndrome
16%
Nuclear Factor I A
16%
Platelet Derived Growth Factor Receptor Beta
16%
Microdeletion Syndrome
16%
FBN1
16%
Denaturing High Performance Liquid Chromatography
15%
Genetic Disorder
15%
Phosphotransferase
14%
Kinase
14%
Autosomal Recessive Disorder
14%
Uniparental Disomy
14%
Indel
14%
Amino Acids
14%
Genotype Phenotype Correlation
13%
Multiplex Polymerase Chain Reaction
13%
Frameshift Mutation
13%
Epigenetics
12%
Marfan's Syndrome
12%
Kinesin
12%
Thrombocytopenia
12%
Homozygosity
11%
Carcinogenesis
10%
Germline Mutation
10%
Medicine and Dentistry
Disease
43%
Exome
21%
Syndrome CHARGE
21%
Neurofibromatosis Type I
20%
Facies
19%
Diagnosis
18%
Persistent Truncus Arteriosus
17%
Cleft Palate
17%
Kabuki Syndrome
16%
Cleidocranial Dysplasia
16%
CHD7
16%
Haploinsufficiency
15%
Hypoplasia
14%
Thrombocytopenia
13%
Genetic Screening
12%
In Vitro
12%
BRCA1
12%
DeJerine-Sottas Disease
11%
Surgery
11%
Syndactyly
11%
Plexiform Neurofibroma
11%
Genetic Disorder
10%
Exon
10%
Rare Disease
10%
Ring Finger
10%
Epileptic Seizure
10%
Blepharophimosis
10%
Salpingooophorectomy
10%
Supernumerary Tooth
10%
Prostaglandin Transporter
10%
Periventricular Heterotopia
10%
Down Syndrome
10%
Brugada Syndrome
10%
Frameshift Mutation
10%
Somatics
10%
Familial Pancreatic Cancer
10%
Platelet Derived Growth Factor Beta Receptor
10%
Medicine
10%
Symptom
10%
Congenital Malformation
9%
Microcephaly
8%
Missense Mutation
8%
Neonatal Infant
8%
Prominent Ear
8%
Occult Cancer
7%
Health Care Cost
7%
Vascular Disease
7%
Germline Mutation
7%
Developmental Delay
7%
Hypotonia
7%
Keyphrases
CHARGE Syndrome
16%
Noonan Syndrome
16%
Missense mutation
12%
Intellectual Disability
10%
Schuurs-Hoeijmakers Syndrome
10%
Aryl Hydrocarbon Receptor Repressor
10%
BCL6 Corepressor
10%
Syndrome Type
10%
Periventricular Nodular Heterotopia
10%
RAS Pathway
9%
Missense
8%
RASopathies
8%
Neurofibromatosis Type 1 (NF-1)
8%
Neurofibromatosis Type I
8%
Oculofaciocardiodental Syndrome
8%
Developmental Delay
7%
CHD7 mutation
7%
Germ Cells
7%
Female Patients
7%
Macrothrombocytopenia
7%
Causative Gene
7%
Syndromic Form
6%
Polymicrogyria
6%
Pathogenic Variants
6%
Genomic Deletion
6%
Kallmann Syndrome
6%
Associated Disorders
6%
Cleft Palate
6%
Syndrome Diagnosis
6%
Zebrafish
6%
Gain-of-function mutation
6%
Congenital Anomalies
5%
Lysinuric Protein Intolerance
5%
Collagen Disease
5%
DPYSL2
5%
CBFβ
5%
Large Fontanelles
5%
Causal Association
5%
Omega-3 Fatty Acids
5%
Direct Evaluation
5%
Cloned pig
5%
FGF Signaling
5%
SHOC2
5%
Craniosynostosis
5%
KMT2D
5%
Associated Complications
5%
1p36 Deletion Syndrome
5%
Aminopterin
5%
Vocal Cords
5%
Tracheotomy
5%