Keyphrases
Phenylketonuria
100%
Neurodevelopmental Disorders
100%
9p21
50%
Best Practice Guidelines
50%
Clinical Benefit
50%
Congenital Anomalies
50%
Interstitial Deletion
50%
Hematological Malignancies
50%
United States
50%
Sapropterin Dihydrochloride
50%
Tumor
50%
Hedgehog Signaling
50%
Sapropterin
50%
Kuvan
50%
Neural Systems
50%
Heterozygous Variant
50%
Cyclin-dependent Kinase Inhibitor 2A (CDKN2A)
50%
Melanoma
50%
Primary Cilia
50%
Patient Selection
50%
Lost to Follow-up
50%
Patient Response
25%
Management Approach
25%
Response Criteria
25%
Blood Phenylalanine Level
25%
Clinician Rating
25%
Phenylalanine Tolerance
25%
Academic Medical Centers
25%
Disease Management
25%
Practice Patterns
25%
Behavior Change
25%
Missense Variants
25%
Array Comparative Genomic Hybridization (aCGH)
20%
Large Deletion
20%
Familial Atypical multiple Mole Melanoma Syndrome
20%
Neurofibromatosis Type I
20%
Malignant Melanoma
20%
Neurofibromatosis Type 1 (NF-1)
20%
Clinical Spectrum
16%
Knockout Cells
11%
Non-muscle Myosin II
11%
Disease Pathogenesis
11%
Provisional Diagnosis
10%
Comparative Genomic Hybridization Analysis
10%
Tumor Protein p53 (TP53)
10%
Cancer Diagnosis
10%
Familial Cancer
10%
Adult children
10%
Adult Cancer
10%
Nervous System Tumors
10%
Medicine and Dentistry
Glycogen Storage Disease Type II
50%
Cyclin Dependent Kinase Inhibitor 2A
50%
Neoplasm
50%
Neural System
50%
Hematologic Malignancy
50%
Newborn Screening
50%
Nodular Melanoma
50%
Stakeholder Engagement
50%
Adolescent Health
50%
Neonatal Infant
30%
Familial Atypical Multiple Mole Melanoma Syndrome
20%
Neurofibromatosis Type I
20%
Array Comparative Genomic Hybridization
20%
Malignant Neoplasm
20%
Genetic Screening
15%
Enzyme Activity
15%
Pancreas Cancer
10%
Gene Deletion
10%
Single Nucleotide Polymorphism
10%
Predictive Testing
10%
Neurofibromatosis
10%
Nervous System Tumor
10%
Cancer Risk
10%
Familial Cancer
10%
Cancer Diagnosis
10%
Dysplastic Nevus Syndrome
10%
Cutaneous Melanoma
10%
DNA Microarray
10%
Family History
10%
Prematurity
5%
False Positive Result
5%
Tandem Mass Spectrometry
5%
Tandem Mass Spectrometry
5%
Biochemistry, Genetics and Molecular Biology
Phenylketonuria
100%
Missense
66%
Cilium
50%
Phenylalanine
50%
Hedgehog Signaling Pathway
50%
Intellectual Disability
33%
Autosomal Dominant Inheritance
33%
Behavioral Change
25%
Heavy Chain
16%
Genetics
16%
Actin
16%
Ciliogenesis
16%
Embryogenesis
16%
Animal Model
16%
Dynamics
16%
C-Terminus
16%
Dysplasia
16%
Phenylalanine
6%
