Medicine & Life Sciences
Congenital Disorders of Glycosylation
100%
Mutation
57%
Phenotype
47%
Glycosylation
45%
Genes
41%
Urocortins
39%
Edinger-Westphal Nucleus
36%
Intellectual Disability
34%
Muscle Hypotonia
23%
Neurodevelopmental Disorders
23%
Cutis Laxa
22%
Child
22%
Mitochondrial Diseases
22%
Pharmacogenetics
20%
Brain
20%
Neurons
18%
Exome
18%
Cutis Laxa, Autosomal Recessive, Type I
16%
Alleles
16%
Gaucher Disease
16%
Fibroblasts
15%
Neurofibromatosis 1
14%
Genetic Testing
14%
Inborn Errors Metabolism
14%
Seizures
13%
Therapeutics
13%
Enzymes
13%
Proteins
13%
Transferrin
13%
Whole Exome Sequencing
12%
Polysaccharides
12%
Brain Diseases
12%
Cocaine
12%
Glycogen Storage Disease XIV
11%
Oxidative Phosphorylation
11%
Epilepsy
11%
Amphetamine
11%
Galactose
10%
Microcephaly
10%
Mesencephalon
10%
Genotype
10%
Serotonin Plasma Membrane Transport Proteins
10%
Plexiform Neurofibroma
10%
phosphomannomutase
9%
3-Methylglutaconic Aciduria
9%
Enzyme Replacement Therapy
9%
Undiagnosed Diseases
9%
Muscles
9%
Megalencephaly
9%
Frontotemporal Dementia
9%
Frontotemporal Lobar Degeneration
9%
Inborn Genetic Diseases
9%
Rare Diseases
8%
Phosphoglucomutase
8%
Peptides
8%
High-Throughput Nucleotide Sequencing
8%
Muscular Diseases
8%
Siblings
8%
Biomarkers
8%
Exons
8%
Septal Nuclei
8%
Genetic Association Studies
8%
Congenital disorder of glycosylation type II
8%
Skin
8%
Loss of Function Mutation
8%
Genomics
8%
Neoplasms
8%
Pharmacogenomic Testing
8%
Missense Mutation
8%
Growth
8%
Precision Medicine
8%
Cytochrome P-450 CYP2D6
7%
Messenger RNA
7%
Bone and Bones
7%
Biopsy
7%
Ataxia
7%
Leigh Disease
7%
Magnetic Resonance Imaging
7%
Neonatal Screening
7%
Congenital disorder of glycosylation type 1A
7%
Haploinsufficiency
7%
Central Nervous System
7%
Rana esculenta
7%
Mothers
7%
Neurofibromatoses
7%
Liver
7%
Genome
7%
Mucopolysaccharidoses
7%
Autism Spectrum Disorder
6%
Human Genetics
6%
Pediatrics
6%
White Matter
6%
Guidelines
6%
Genetic Variation
6%
Mucopolysaccharidosis I
6%
Hypoglycemia
6%
Eye
6%
Anxiety
6%
Muscular Dystrophies
6%