Keyphrases
Phenylketonuria
100%
Cant
39%
Phenylalanine
37%
Intellectual Disability
29%
ABCC9
27%
KATP Channel
25%
Cantú Syndrome
24%
Missense Variants
23%
Executive Ability
23%
Kir6.1
23%
White Matter Integrity
22%
Gain-of-function mutation
22%
Ectodermal Dysplasia
22%
SUR2
20%
Developmental Delay
19%
Sapropterin Dihydrochloride
19%
Pathogenic Variants
18%
Clinical Spectrum
17%
Duplication
16%
Dysmorphic Features
16%
Newborn Screening
15%
Biallelic
15%
Phenotypic Spectrum
15%
Osteogenesis Imperfecta
15%
Autosomal Dominant
15%
Autosomal Recessive
14%
Sapropterin
14%
Proband
14%
Neurodevelopmental Disorders
14%
Hypotonia
13%
Clinical Features
13%
Tetrahydrobiopterin
12%
KCNJ8
12%
Exome Sequencing
12%
Blood Phenylalanine
12%
Facial Features
12%
Gain-of-function
11%
Holoprosencephaly
11%
Illinois
11%
Phenylalanine Level
11%
Compound Heterozygous mutation
11%
Copy number Variation
10%
Related Disorders
10%
Dysmorphic Facial Features
10%
Autosomal Recessive Inheritance
10%
Neonate
10%
New Patients
10%
Mean Diffusivity
10%
Type I Collagen
9%
Photosystem II
9%
Biochemistry, Genetics and Molecular Biology
Missense
46%
Dysplasia
45%
Intellectual Disability
42%
Exome Sequencing
32%
ABCC9
31%
Phenylketonuria
28%
Adenosine Triphosphate Sensitive Potassium Channel
28%
Autosomal Dominant Inheritance
25%
Autosomal Recessive Inheritance
23%
Phenylalanine
22%
Proband
22%
Exon
21%
Adenosine Triphosphate
19%
Exome
19%
Allele
18%
Amino Acids
16%
Genetics
15%
KCNJ8
15%
Genotyping
14%
Enzyme
14%
Protein Kinases
12%
Sapropterin
12%
Genomics
12%
Bone Development
11%
Fibroblast
11%
Penetrance
10%
Clinical Trial
10%
Wild Type
9%
Glibenclamide
9%
Transfer RNA
9%
Prevalence
9%
Mosaicism
9%
Body Height
8%
Methylation
8%
Array Comparative Genomic Hybridization
8%
Fluorescence in Situ Hybridization
8%
Gene Mutation
8%
Type I Collagen
8%
Point Mutation
8%
N-Terminus
8%
Genotype Phenotype Correlation
8%
Zebra Fish
7%
GLI2
7%
Newborn Screening
7%
RNA RNA Hybridization
7%
Induced Pluripotent Stem Cell
7%
Codon
7%
Calmodulin
7%
Mitochondrial Disease
6%
Next Generation Sequencing
6%
Medicine and Dentistry
Diseases
34%
Adenosine Triphosphate Sensitive Potassium Channel
27%
Newborn Screening
15%
Developmental Delay
14%
Adenosine Triphosphate
12%
Neonate
12%
Facies
12%
KCNJ8
11%
Cardiomegaly
11%
Neonatal Infant
11%
Osteogenesis Imperfecta
10%
Hypertrichosis
10%
Bone Dysplasia
9%
Clinical Feature
9%
Patent Ductus Arteriosus
8%
Diagnosis
8%
Phenylalanine Ammonia Lyase
7%
Hunter Syndrome
7%
Phenylketonuria
7%
Fabry Disease
7%
Autosomal Dominant Inheritance
7%
Pediatrics
7%
Face Malformation
7%
Surgery
7%
Disease
6%
Contracture
6%
Smooth Muscle
6%
Glibenclamide
6%
Gain of Function Mutation
6%
Autosomal Recessive Inheritance
6%
Infancy
6%
Congestive Heart Failure
6%
Exome Sequencing
6%
Kabuki Syndrome
5%
Hypohidrotic Ectodermal Dysplasia
5%
Migraine
5%
Glycogen Storage Disease Type II
5%
Infection
5%
Morphometric Analysis
5%
Pediatrics Patient
5%
Dysmorphic Feature
5%
Phenylalanine
5%
Hypotonia
5%
Genetic Disorder
5%
Microcephaly
5%
Penetrance
5%
Electrophysiology
5%
Neurologic Disease
5%
Scoliosis
5%
Intractable Epilepsy
5%