Keyphrases
Phenylketonuria
100%
Phenylalanine
37%
Cant
35%
Intellectual Disability
29%
ABCC9
27%
KATP Channel
25%
Cantú Syndrome
24%
Executive Ability
23%
White Matter Integrity
22%
Gain-of-function mutation
22%
Kir6.1
21%
Developmental Delay
19%
Missense Variants
19%
Sapropterin Dihydrochloride
19%
SUR2
19%
Pathogenic Variants
18%
Ectodermal Dysplasia
18%
Duplication
16%
Clinical Spectrum
16%
Newborn Screening
15%
Phenotypic Spectrum
15%
Osteogenesis Imperfecta
15%
Autosomal Dominant
15%
Sapropterin
14%
Proband
14%
Neurodevelopmental Disorders
14%
Autosomal Recessive
13%
Hypotonia
13%
Clinical Features
13%
Tetrahydrobiopterin
12%
KCNJ8
12%
Exome Sequencing
12%
Blood Phenylalanine
12%
Dysmorphic Features
12%
Facial Features
12%
Holoprosencephaly
11%
Illinois
11%
Gain-of-function
11%
Biallelic
11%
Phenylalanine Level
11%
Copy number Variation
10%
Compound Heterozygous mutation
10%
Related Disorders
10%
Dysmorphic Facial Features
10%
Autosomal Recessive Inheritance
10%
New Patients
10%
Mean Diffusivity
10%
Type I Collagen
9%
Photosystem II
9%
Novel mutation
9%
Biochemistry, Genetics and Molecular Biology
Missense
42%
Intellectual Disability
41%
Dysplasia
33%
ABCC9
31%
Phenylketonuria
28%
Exome Sequencing
27%
ATP-Sensitive Potassium Channel
27%
Autosomal Dominant Inheritance
25%
Phenylalanine
24%
Proband
22%
Exon
21%
Autosomal Recessive Inheritance
19%
Adenosine Triphosphate
18%
Exome
16%
Genetics
15%
KCNJ8
15%
Amino Acids
14%
Genotyping
14%
Enzyme
14%
Allele
13%
Mouse
13%
Protein Kinases
12%
Bone Development
11%
Penetrance
10%
Clinical Trial
10%
Signal Transduction
10%
Transfer RNA
9%
Glibenclamide
9%
Body Height
9%
Wild Type
9%
Mosaicism
9%
Methylation
8%
Array Comparative Genomic Hybridization
8%
Fluorescence in Situ Hybridization
8%
Type I Collagen
8%
Fibroblast
8%
Point Mutation
8%
N-Terminus
8%
Genotype Phenotype Correlation
8%
Zebra Fish
7%
Tetrahydrobiopterin
7%
RNA RNA Hybridization
7%
GLI2
7%
Filamin
7%
Newborn Screening
7%
Codon
7%
Missense Mutation
7%
Mitochondrial Disease
6%
Next Generation Sequencing
6%
Low Copy Repeats
6%
Medicine and Dentistry
Disease
35%
Adenosine Triphosphate Sensitive Potassium Channel
26%
Newborn Screening
15%
Developmental Delay
14%
Adenosine Triphosphate
12%
Facies
12%
KCNJ8
11%
Cardiomegaly
11%
Osteogenesis Imperfecta
10%
Hypertrichosis
10%
Neonatal Infant
9%
Bone Dysplasia
9%
Clinical Feature
9%
Diagnosis
9%
Patent Ductus Arteriosus
8%
Neonate
8%
Phenylalanine Ammonia Lyase
7%
Hunter Syndrome
7%
Phenylketonuria
7%
Hyperammonemia
7%
Autosomal Dominant Inheritance
7%
Surgery
7%
Face Malformation
7%
Contracture
6%
Smooth Muscle
6%
Pediatrics
6%
Glibenclamide
6%
Gain of Function Mutation
6%
Artery
6%
Symptom
6%
Infancy
6%
Exome Sequencing
6%
Kabuki Syndrome
5%
Hypohidrotic Ectodermal Dysplasia
5%
Migraine
5%
Morphometrics
5%
Fabry Disease
5%
Glycogen Storage Disease Type II
5%
Infection
5%
Exon
5%
Dysmorphic Feature
5%
Phenylalanine
5%
Hypotonia
5%
Microcephaly
5%
Penetrance
5%
Neurologic Disease
5%
Autosomal Recessive Inheritance
5%
Scoliosis
5%
Genetic Disorder
5%
Intractable Epilepsy
5%
