Biochemistry, Genetics and Molecular Biology
Microarrays
100%
Intellectual Disability
66%
Oxidoreductase
66%
Methionine
41%
Adenosine Triphosphate
38%
Genetic Divergence
37%
Chromodomain
33%
Germline Mutation
33%
Homozygote
33%
DNA-binding Protein
33%
Dehydrogenase
33%
Mitochondrial DNA Depletion Syndrome
33%
Histone
33%
MUC8
33%
Mitochondrial Disorder
33%
Autosomal Recessive Inheritance
33%
Array Comparative Genomic Hybridization
33%
Mouse
33%
Nerve Cell Differentiation
33%
Hydrolase
33%
Homozygosity
33%
Metabolomics
33%
Reductase
33%
Histone H3
33%
Helicase
33%
Mitochondrial Disease
33%
Inborn Error of Metabolism
33%
Missense
27%
Lipoylation
22%
Metabolic Pathway
22%
Lipogenesis
22%
Cross Sectional Study
22%
Genetic Test
22%
Glutamine
22%
Single Nucleotide Polymorphism
22%
S-Adenosyl Methionine
20%
Patient Coding
16%
Uniparental Disomy
16%
Microdeletion Syndrome
16%
Exome Sequencing
15%
Proband
15%
Posttranslational Modification
14%
Electronic Medical Record
12%
Lipid
11%
Dynamics
11%
Heterozygote
11%
Genetic Carrier
11%
Amino Acids
11%
Metabolic Regulation
11%
Genetics
11%
Keyphrases
S-Adenosylhomocysteine Hydrolase Deficiency
33%
MAT1A
33%
Carglumic Acid
33%
Chromosomal Microarray
33%
MUC8
33%
FBXL4
33%
Hereditary Spastic Paraplegia
33%
Paediatric Practice
33%
Neurodevelopment
33%
Homocysteinemia
33%
Arginase 1 Deficiency
33%
DNA Polymerase IV
33%
Core Protein
33%
47,XXX
33%
Reductase
33%
Recombinant Chromosome
33%
Hypermethioninemia
16%
Genome-wide SNPs
16%
Paracentric Inversion
16%
Variant Annotation
11%
Hyperammonemia
11%
Hypoglycemia
11%
Consistency Degree
11%
Low Consistency
11%
Lactic Acidosis
11%
Lower Limb Spasticity
10%
Developmental Delay
8%
Microarray Detection
8%
Northern African Population
8%
Inconclusive Result
8%
Proximal Urea Cycle Disorders
8%
Post-translational Modification Analysis
8%
In(III)
8%
Definitive Diagnosis
8%
Urea Cycle Disorders
6%
Arginine
6%
Coffin-Siris Syndrome
6%
High-density Microarray
6%
Absence of Heterozygosity
6%
BeadChip
6%
Chromosomal Changes
6%
Clinical Presentation
5%
Compound Heterozygous mutation
5%
Elevated Aminotransferases
5%
Whole Exome Sequencing
5%
Novel Variants
5%
Dimerization
5%
Airway mucin
5%
Gene Nomenclature
5%
Energy Production
5%
Medicine and Dentistry
Methylmalonic Acidemia
33%
Cobalamin
33%
N Acetylglutamic Acid
33%
Glutamate Synthase
33%
Kidney Injury
33%
Disorders of Mitochondrial Functions
33%
Mitochondrial DNA Depletion Syndrome
33%
Pediatrics Patient
33%
Achondroplasia
33%
DeJerine-Sottas Disease
33%
Arginase 1
33%
Atypical Hemolytic Uremic Syndrome
33%
Lactic Acidemia
33%
Genetic Variability
33%
Infigratinib
33%
Methylmalonic Acid
25%
Homocysteine
25%
Microangiopathy
25%
Lactic Acidosis
22%
Hypermethioninemia
20%
Carglumic Acid
14%
Developmental Delay
14%
Spasticity
13%
Acute Kidney Injury
12%
Clinical Feature
11%
Lower Limb
10%
Pediatrics
8%
DNA Sequence
8%
Hyperhomocysteinemia
8%
Health Care Facility
8%
Tertiary Care
8%
Fibroblast Growth Factor Receptor 3
6%
Arginine
6%
Pharmacokinetics
6%
Urea Cycle Disorder
6%
Toddlers
5%
Interactions with DNA
5%
Protein Sequencing
5%
Hypotonia
5%
Sequence Analysis
5%
