Keyphrases
Methylmalonic Acidemia
28%
Interpregnancy Interval
28%
Diagnostic Exome Sequencing
28%
Schindler Disease
28%
Gaucher
28%
Saposin C
28%
Wnt Signaling
28%
Human Cognition
28%
Wnt Signaling Pathway
28%
Group Consensus
28%
Targeted Proteomics
28%
Hypomyelinating Leukodystrophy
28%
Hunter Disease
28%
Rare Genetic Disease
28%
Middle Eastern Population
28%
Etoricoxib
28%
PEX16
28%
Peroxisomal Disorders
28%
Biochemical Disruption
28%
Acute Management
28%
Serine Deficiency
28%
Hypertrophic Osteoarthropathy
28%
Cobalamin C Deficiency
28%
Molecular Spectra
28%
Mitochondrial DNA Maintenance
28%
Thymidine Kinase 2
28%
Newborn Screening
28%
Farber Disease
28%
Null Variants
28%
Dried Urine Spots
28%
Pharmacological Chaperone
28%
Fabry Disease
28%
Phosphoenolpyruvate Carboxylase
28%
PCK1
28%
FBXL4
28%
Mitochondrial Maintenance
28%
Biochemical Outcome
28%
Biochemical Imaging
28%
Bilateral Sensorineural Hearing Loss
28%
PPP1R21
28%
Endocytic
28%
Neurodevelopmental Syndrome
28%
SYNJ1
28%
Neonatal Onset
28%
Transaldolase
28%
Isovaleryl-CoA Dehydrogenase
28%
Inborn Errors of Metabolism
28%
CDH23 Gene
28%
MPS VI
28%
Variant Database
28%
Online Healthcare
28%
Pathogenicity Prediction Tools
28%
Expert Rules
28%
Carbonic Anhydrase VA Deficiency
28%
Genomic Landscape
28%
Manganism
28%
SLC39A14
28%
Intronic Variant
28%
Proteostasis Regulators
28%
SLC4A1
28%
Spastic Tetraplegia
28%
Report Analysis
28%
Transaldolase Deficiency
28%
TALDO1
28%
GLA Gene
28%
Renal Biopsy
28%
Ambroxol
28%
Renal Variant
28%
Gene mutation
28%
Cardio-obstetrics
28%
Orphanet
28%
Citrulline Supplementation
28%
Arginine Supplementation
28%
Perforin Gene
28%
Hemophagocytic Lymphohistiocytosis
28%
Maternal Uniparental Disomy
28%
Mendelian Conditions
28%
Heterogeneous Cohorts
28%
Urticarial Vasculitis
28%
DNASE1L3
28%
Cutaneous Features
28%
Clinical Phenotype
21%
Hyperammonemic Encephalopathy
19%
Uniparental Disomy
19%
MtDNA Depletion
17%
Metabolism Disorder
17%
ASCT1
17%
Cerebro
14%
Middle Eastern Families
14%
Zinc Transporter
14%
Cognition Deficits
14%
Segment Polarity Gene
14%
Human Homolog
14%
Iranian Families
14%
Splice Junction
14%
Exon Skipping
14%
Human Brain Development
14%
RNA Analysis
14%
Pathogenic Effects
14%
Electronic Health Record Data
14%
Biochemistry, Genetics and Molecular Biology
Inborn Error of Metabolism
100%
Genetics
80%
Enzyme
66%
Lysosomal Storage Disease
47%
Mitochondrial DNA Depletion Syndrome
38%
Schindler Disease
28%
Thymidine Kinase
28%
Exome Sequencing
28%
Peroxisome
28%
Homocystinuria
28%
Skeletal Muscle
28%
Newborn Screening
28%
Mitochondrial DNA
28%
Pharmacological Chaperone
28%
Galactose
28%
Methylmalonic Acidemia
28%
Propionic Acidemia
28%
Phosphoenolpyruvate Carboxykinase
28%
PCK1
28%
Metabolomics
28%
Autosomal Recessive Inheritance
28%
Synaptojanin
28%
Zinc Ion
28%
Nonsense-Mediated Decay
28%
Isovaleryl-CoA Dehydrogenase
28%
CDH23
28%
Maroteaux-Lamy Syndrome
28%
Citrulline
28%
Manganism
28%
Transaldolase
28%
Liquid Chromatography-Mass Spectrometry
28%
Zinc
28%
Allele
28%
Fibroblast
28%
Carbonic Anhydrase
28%
Electronic Health Record
28%
Artificial Intelligence
28%
Missense
28%
Oncogene
28%
Alpha-Mannosidosis
28%
Patient Participation
28%
Macromolecule
28%
Lysosome
28%
Lung Function
28%
Breathing
28%
Respiratory Function
28%
Metabolite
28%
Derivatization
23%
Genetic Disorder
23%
Retrospective Study
21%
POLG
19%
Bioenergetics
19%
Cobalamin
19%
Creatine Kinase
19%
Electron Transfer Flavoprotein B
17%
Phenylketonuria
16%
Genetic Screening
14%
Proteomics
14%
Consanguinity
14%
Awareness
14%
ETFDH
14%
Fatty Acid Blood Level
14%
Reversed-Phase Chromatography
14%
Exome
14%
Maturation
14%
Next Generation Sequencing
14%
Reference Value
14%
Lactate Blood Level
14%
DNA Content
14%
GJB2
14%
Alpha-Glucosidase
14%
Fatty Acid Metabolism
14%
Mineralization
14%
Immunoprecipitation
14%
Whole Genome Sequencing
14%
Biotinidase
14%
Transferrin
14%
Gene Mutation
9%
Homozygosity
9%
Gaucher's Disease
9%
Prosaposin
9%
Glucocerebroside
9%
Infancy
9%
Pyruvate Dehydrogenase
9%
MPV17
9%
Single-Nucleotide Polymorphism
9%
Penetrance
9%
Streptococcus Agalactiae
9%
Propionyl-CoA
9%
Isovaleryl-CoA
9%
NPC1
9%
Cohort Study
9%
Cell Function
9%
Apelin
9%
Blood Plasma
9%
Exon Skipping
7%
Segment Polarity Gene
7%
Wnt Signaling Pathway
7%
Brain Development
7%
Methylmalonyl-CoA Mutase Deficiency
7%
Medicine and Dentistry
Rare Disease
57%
Pathogenicity
34%
Lysosomal Storage Disease
34%
Inborn Error of Metabolism
33%
Storage Disease
29%
Methylmalonic Acidemia
28%
Glycogen Storage Disease Type II
28%
Oxygen
28%
Early Diagnosis
28%
Hunter Syndrome
28%
Etoricoxib
28%
Osteoarthropathy
28%
Cardiovascular Disease
28%
Obstetrics
28%
Propionic Acidemia
28%
Liquid Chromatography-Mass Spectrometry
28%
Farber Disease
28%
Lactic Acidosis
28%
Next Generation Sequencing
28%
Maroteaux-Lamy Syndrome
28%
Dried Blood Spot
28%
Manganism
28%
Mutational Analysis
28%
Tetraplegia
28%
Transaldolase
28%
Fabry Disease
28%
Gene Mutation
28%
Cardiomyopathy
28%
Renal Biopsy
28%
Citrulline
28%
Breast Cancer
28%
Mannosidosis
28%
Cobalamin
19%
Methylmalonic aciduria
19%
Spirometry
19%
In Silico
17%
Zinc Transporter
14%
Parkinsonism
14%
Biotinidase Deficiency
14%
Aciduria
14%
Lung
14%
Genetic Screening
11%
Subcutaneous Nodule
11%
Hoarseness
11%
Hepatosplenomegaly
11%
Galactosidase
11%
Polyol
11%
Genetic Disorder
10%
Diagnosis
10%
Lysosome
10%
Lysosome Enzyme
9%
Propionic Acid
9%
Genotype Phenotype Correlation
9%
Propionyl-CoA
9%
Phenylketonuria
9%
Family History
7%
Organic Acidemia
7%
Care Coordination
7%
Mitochondrial DNA Depletion Syndrome
7%
Awareness
7%
Population
7%
Zellweger Syndrome
7%
Maple Syrup Urine Disease
7%
Beta-Ketothiolase Deficiency
7%
Joint Swelling
7%
Risedronic Acid
7%
Tamoxifen
7%
Colchicine
7%
Retrospective Study
7%
Delayed Diagnosis
7%
N Acetylgalactosamine 4 Sulfatase
7%
Citric Acid Cycle
6%
Peripheral Arterial Tonometry
6%
Design Controls
5%
Diseases
5%
Personalized Medicine
5%
Clinician
5%
Cell Function
5%
Dihydrolipoamide Dehydrogenase
5%
Carnitine
5%
Thiamine
5%
Penetrance
5%
Acid Ceramidase
5%
Failure to Thrive
5%
Gene Sequence
5%
Joint Function
5%
Cherry-Red Spot
5%
Nerve Biopsy
5%
Stop Codon
5%
Missense Mutation
5%
Molecular Diagnosis
5%
Amino Acid Transporter
5%
Nonsense Mediated mRNA Decay
5%
Sylvian Fissure
5%
Reading Frame
5%
End Stage Renal Disease
5%
Progressive Disease
5%
Hydrops fetalis
5%
Kidney Concentrating Capacity
5%
Multiple Carboxylase Deficiency
5%