Medicine and Dentistry
Metabolic Disorder
77%
Tertiary Care
76%
Diagnosis
64%
Diseases
61%
Aciduria
52%
Consanguinity
47%
Newborn Screening
42%
Disease
39%
Glycogen Storage Disease
35%
Next Generation Sequencing
35%
Epileptic Seizure
30%
Neonates
26%
Early Diagnosis
25%
Cross Sectional Study
24%
Cobalamin
24%
Hypoxic Ischemic Encephalopathy
23%
Medical Decision Making
23%
Newborn Period
23%
Genetic Screening
22%
Genetic Counseling
22%
Alkaptonuria
22%
Glutaric Aciduria Type 1
22%
Hyperphenylalaninemia
22%
Screening
20%
Congenital Hypothyroidism
20%
Microcephaly
20%
Health Care
20%
Methylmalonic aciduria
20%
Molecular Diagnosis
19%
Dysplasia
17%
Necrotizing Enterocolitis
17%
Tyrosinemia
17%
Low and Middle Income Countries
17%
Cleft Palate
17%
Palate
17%
Enzyme Activity
17%
Congenital Anomaly
17%
Liver Injury
17%
Lysosomal Storage Disease
17%
Hurler Syndrome
17%
Fucosidosis
17%
Liver Biopsy
17%
Storage Disease
17%
Failure to Thrive
17%
Chromosome 11
17%
Ear Malformation
17%
Chromosome 22
17%
Monogenic Disorder
17%
Protein Defect
17%
Phosphate Binding Protein
17%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Autosomal Recessive Inheritance
64%
Next Generation Sequencing
52%
Consanguinity
44%
Biotinidase
35%
Exon
35%
Fructose 1,6-bisphosphatase
35%
Cobalamin
35%
Newborn Screening
35%
Observational Study
35%
Amino Acids
29%
Magnetic Resonance Imaging
26%
Amino Acid Blood Level
23%
Screening
17%
SLC37A4
17%
Frameshift Mutation
17%
Methylenetetrahydrofolate Reductase
17%
Peptidase
17%
Hypertriglyceridemia
17%
MKS1
17%
DNA Template
17%
ARL13B
17%
NPHP4
17%
CEP290
17%
GLIS2
17%
NPHP3
17%
AHI1
17%
TMEM67
17%
CC2D2A
17%
Gene Locus
17%
RPGRIP1L
17%
IQCB1
17%
Allele
17%
INVS
17%
Canavan Disease
17%
Phenylalanine
17%
Carbohydrate Sulfotransferase
17%
NPHP1
17%
Single Gene Disorder
17%
Dideoxynucleotide Sequencing
17%
Genomics
17%
Heteroduplex
17%
Retrospective Study
17%
Glycosylphosphatidylinositol
17%
Fumarase
17%
Lyase
17%
Gas Chromatography-Mass Spectrometry
17%
High-Performance Liquid Chromatography
17%
Child Health
17%
Cross Sectional Study
17%
