Medicine & Life Sciences
Congenital Disorders of Glycosylation
100%
Mutation
58%
Phenotype
46%
Glycosylation
45%
Genes
42%
Urocortins
40%
Edinger-Westphal Nucleus
37%
Intellectual Disability
33%
Cutis Laxa
23%
Muscle Hypotonia
22%
Mitochondrial Diseases
22%
Child
22%
Neurodevelopmental Disorders
21%
Pharmacogenetics
21%
Brain
20%
Neurons
18%
Cutis Laxa, Autosomal Recessive, Type I
17%
Gaucher Disease
16%
Alleles
16%
Exome
16%
Fibroblasts
15%
Neurofibromatosis 1
15%
Inborn Errors Metabolism
14%
Genetic Testing
14%
Therapeutics
13%
Enzymes
13%
Transferrin
13%
Seizures
13%
Whole Exome Sequencing
13%
Brain Diseases
12%
Proteins
12%
Polysaccharides
12%
Cocaine
12%
Glycogen Storage Disease XIV
12%
Oxidative Phosphorylation
12%
Amphetamine
11%
Galactose
11%
Epilepsy
11%
Microcephaly
10%
Mesencephalon
10%
Genotype
10%
Serotonin Plasma Membrane Transport Proteins
10%
Plexiform Neurofibroma
10%
phosphomannomutase
10%
3-Methylglutaconic Aciduria
10%
Enzyme Replacement Therapy
9%
Undiagnosed Diseases
9%
Megalencephaly
9%
Frontotemporal Dementia
9%
Frontotemporal Lobar Degeneration
9%
Inborn Genetic Diseases
9%
Muscles
9%
Phosphoglucomutase
9%
Rare Diseases
8%
High-Throughput Nucleotide Sequencing
8%
Exons
8%
Septal Nuclei
8%
Genetic Association Studies
8%
Congenital disorder of glycosylation type II
8%
Peptides
8%
Loss of Function Mutation
8%
Skin
8%
Genomics
8%
Siblings
8%
Neoplasms
8%
Muscular Diseases
8%
Pharmacogenomic Testing
8%
Missense Mutation
8%
Cytochrome P-450 CYP2D6
8%
Biomarkers
8%
Precision Medicine
8%
Bone and Bones
7%
Growth
7%
Messenger RNA
7%
Ataxia
7%
Leigh Disease
7%
Magnetic Resonance Imaging
7%
Neonatal Screening
7%
Congenital disorder of glycosylation type 1A
7%
Biopsy
7%
Rana esculenta
7%
Neurofibromatoses
7%
Liver
7%
Mucopolysaccharidoses
7%
Central Nervous System
7%
Human Genetics
7%
Pediatrics
7%
Autism Spectrum Disorder
6%
Guidelines
6%
Mothers
6%
Genetic Variation
6%
Mucopolysaccharidosis I
6%
Hypoglycemia
6%
Haploinsufficiency
6%
Eye
6%
Anxiety
6%
White Matter
6%
pirfenidone
6%
Induced Pluripotent Stem Cells
6%