Biochemistry, Genetics and Molecular Biology
Newborn Screening
100%
Genotype Phenotype Correlation
75%
Congenital Disorder of Glycosylation
64%
Fabry Disease
64%
Gaucher's Disease
64%
22q13 Deletion Syndrome
64%
Clinical Trial
52%
Intellectual Disability
48%
Screening
48%
SHANK3
46%
Autosomal Recessive Inheritance
32%
Homozygosity
32%
Progeny
32%
PRRT2
32%
Lysosomal Storage Disease
32%
Metabolic Disorder
32%
Genotyping
32%
Single-Nucleotide Polymorphism
32%
SNP Array
32%
Ferredoxin
32%
Clinical Study
32%
Oxidoreductase
32%
Reductase
32%
Genetic Screening
27%
Autosomal Recessive Disorder
24%
Alpha-Galactosidase
16%
Lipid
16%
Glycosylation
16%
Molecular Genetics
16%
Consanguinity
16%
Enzyme
16%
Inbreeding
16%
Candidate Gene
16%
Homozygote
16%
Genetic Counseling
10%
Next Generation Sequencing
10%
Biochemical Testing
10%
Inborn Error of Metabolism
10%
Genetic Disorder
10%
Founder Effect
10%
Dideoxynucleotide Sequencing
10%
Dolichol
8%
Oligosaccharide
8%
Mannose
8%
Galactose
8%
N-Linked Glycosylation
8%
Tetrasaccharide
8%
Ordo
8%
Mannosyltransferase
8%
Steroid Biosynthesis
8%
Keyphrases
TWIST2
32%
Inherited Variants
32%
Nahua
32%
Setleis Syndrome
32%
Focal Facial Dermal Dysplasia
32%
Neonate
32%
N370S
32%
Paroxysmal Kinesigenic Dyskinesia
32%
Neurodevelopmental Disorders
32%
Metabolic Disorders
32%
Autism Spectrum Disorder
32%
Hypoglycemia
32%
Growth Hormone Deficiency
32%
Zinc Finger Protein
32%
Clinical Evaluation Tool
32%
Cortisol Deficiency
32%
Iceberg
32%
Regions of Homozygosity
32%
Hydroxysteroid Dehydrogenase
32%
Confirmatory Study
21%
DNA Testing
21%
HSD17B3
21%
Intellectual Disability
20%
Growth Hormone Treatment
19%
Gonadotropins
17%
Chitotriosidase Activity
16%
ACTH Receptor
12%
Insulin-like Growth factor-1
12%
PRRT2 mutations
12%
ATM Gene
12%
Serum Cortisol
12%
Growth Hormone
12%
MC2R
12%
Hormone Levels
12%
Cholestasis
12%
Blood Glucose
12%
Consanguineous Parents
11%
Metabolic Disease
10%
Specific mutation
10%
Diverse Groups
10%
Newborn Screening
10%
Carrier Screening
10%
Genetic Counseling
10%
Biochemical Tests
10%
Genetic Disease
10%
Founder Effect
10%
Molecular Mechanisms of Disease
10%
Condition Mapping
10%
NCBI Database
10%
Search Feature
10%
Medicine and Dentistry
Newborn Screening
81%
Gaucher Disease Type 1
64%
Myoclonus
32%
Neonate
32%
Hydrocortisone
32%
Screening
32%
Fabry Disease
32%
Lysosomal Storage Disease
32%
Growth Hormone Deficiency
32%
Patient Referral
32%
Counseling
32%
Hypoglycemia
32%
Melanocortin 2 Receptor
25%
Disease
22%
Growth Hormone
19%
Glucocorticoid
19%
Corticotropin
19%
Family History
16%
Clinical Significance
16%
Clinical Trial
16%
Symptom
16%
Diagnosis
16%
Dystonia
12%
Cholestasis
12%
Hormone Determination
12%
Growth Hormone Release
12%
Public Health
10%
Chitotriosidase
10%
Storage Disease
10%
Receptor Gene
6%
Thyroid Function
6%
Stereotypic Movement Disorder
6%
Chorea
6%
Hyperpigmentation
6%
Glucagon
6%
Genetic Screening
6%
Elevated Transaminases
6%
Prolactin
6%
Hormone Therapy
6%
Pituitary Disorder
6%
Blood Glucose
6%
Neonatal Hypoglycemia
6%
Ataxia
6%
Hyperbilirubinemia
6%
Exon
6%
Gonadotropin
6%
Homozygosity
6%
Clinical Management
5%
Biological Marker
5%
Enzymology
5%
