Keyphrases
Intellectual Disability
92%
Bardet-Biedl Syndrome
88%
Denmark
87%
Rett Syndrome
68%
Induced Pluripotent Stem Cells (iPSCs)
59%
Fragile X Syndrome
59%
Tourette Syndrome
44%
Gilles De La Tourette Syndrome
44%
Autosomal Recessive
44%
Male Patients
41%
Genetic Counseling
40%
Duplication
38%
BBS1
36%
Methyl-CpG-binding Protein 2 (MeCP2)
34%
Fragile X Mental Retardation 1 (FMR1)
34%
Mosaicism
33%
Retinal Dystrophy
33%
Developmental Delay
33%
Cornelia De Lange Syndrome (CdLS)
31%
Synthetic Amino Acids
29%
Caseinomacropeptide
29%
Oculocutaneous Albinism
29%
Phenylketonuria
29%
Amyotrophic Lateral Sclerosis
29%
Fetus
29%
Seizure
29%
Nonsense mutation
29%
Novel mutation
29%
Molecular Genetic Diagnosis
28%
BBS10
28%
Chromosome Analysis
25%
Obesity
24%
Clinical Features
23%
Beckwith-Wiedemann Syndrome
23%
Molecular Diagnostics
22%
Primary Cilia
22%
Malformation
22%
Fibroblasts
22%
Microdeletion
21%
BBS5
21%
Paternal Uniparental Disomy
20%
Phenylalanine
20%
Haploinsufficiency
20%
Pathogenic Variants
19%
Monogenic
19%
Genetic Testing
19%
Six Genes
19%
Molecular Genetic Analysis
19%
Sequence Variation
19%
Ciliogenesis
19%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Intellectual Disability
86%
Rett Syndrome
73%
Mosaicism
69%
Induced Pluripotent Stem Cell
59%
Fluorescence in Situ Hybridization
56%
Candidate Gene
54%
Cytogenetics
53%
BBS1
44%
Chromosomal Rearrangement
44%
Exon
43%
Copy-Number Variation
39%
Molecular Genetics
37%
Next Generation Sequencing
36%
Cilium
34%
FMR1
29%
Haplotype
29%
Nonsense Mutation
29%
Comorbidity
27%
Fibroblast
25%
Proband
24%
Beckwith-Wiedemann Syndrome
23%
Polymerase Chain Reaction
22%
SMC1A
22%
Multiplex Ligation-Dependent Probe Amplification
22%
Haploinsufficiency
22%
Stem Cell Line
22%
Autosomal Recessive Inheritance
22%
BBS5
21%
Methylation
20%
Postnatal Growth
20%
Prenatal Growth
20%
Uniparental Disomy
20%
MECP2
19%
Aneuploidy
19%
Ciliogenesis
19%
Genotyping
19%
Maturation
18%
BBSome
18%
NIPBL
18%
SMC3
18%
HDAC8
18%
RAD21
18%
Missense
18%
Chromosome Regions
18%
Trisomy 21
17%
Chromosome 13
17%
Angelman Syndrome
17%
X Chromosome
17%
Chromosome 15
17%
Medicine and Dentistry
Disease
52%
Genetic Counseling
34%
Bardet-Biedl Syndrome
29%
Rett Syndrome
29%
De Lange Syndrome
29%
Genetic Screening
21%
Autosomal Recessive Inheritance
19%
Facies
19%
Diagnosis
14%
Audiology
14%
Induced Pluripotent Stem Cell
14%
Bone Turnover
14%
Malignant Neoplasm
14%
Oculocutaneous Albinism
14%
Consanguinity
14%
Congenital Hyperinsulinism
14%
Patient with Intellectual Disability
14%
Fragile X Syndrome
14%
Cancer Syndrome
14%
Autosomal Dominant Optic Atrophy
14%
Ophthalmology
14%
Eye Disease
14%
Developmental Delay
14%
Uniparental Disomy
14%
Triploidy
14%
Congenital Heart Defect
14%
Plagiocephaly
14%
Carcinoma in Situ
14%
Epileptic Seizure
14%
Gorlin Syndrome
14%
Neoplasm
14%
Mosaicism
14%
Cataract
14%
Cohort Analysis
14%
Pregnancy
14%
Molecular Diagnosis
13%
Differential Diagnosis
13%
First Trimester Pregnancy
13%
SMC3
12%
Histone Deacetylase 8
12%
Ptosis
12%
Gastroesophageal Reflux
12%
Symptom
12%
Genetic Disorder
11%
Fluorescence in Situ Hybridization
11%
Next Generation Sequencing
10%
Congenital Malformation
9%
Urogenital Tract Malformation
9%
Visual Impairment
9%
Beckwith Wiedemann Syndrome
8%
