Keyphrases
Precision Medicine
81%
Chediak-Higashi Syndrome
81%
Neurological Involvement
81%
Gaucher Disease
62%
Loeys-Dietz Syndrome
61%
Pathophysiology
57%
Undiagnosed Diseases Network
54%
National Institutes of Health
54%
Natural History
51%
Glucocerebrosidase Gene
51%
Glucocerebrosidase
46%
Pulmonary Fibrosis
45%
Musculocontractural
40%
Medial Arterial Calcification
40%
CHST14
40%
Syndrome Type
40%
Therapeutic Advances
40%
Pseudoxanthoma Elasticum
40%
Tissue-nonspecific Alkaline Phosphatase
40%
Sequence Variation
40%
Cognitive Outcome
40%
Melanophilin
40%
Epirubicin
40%
Lineage-specific
40%
Familial Pulmonary Fibrosis
40%
Idiopathic Parkinson's Disease
40%
Glucocerebrosidase mutations
40%
Taiwan
40%
Generalized Arterial Calcification of Infancy
40%
Vascular Smooth muscle Cells
40%
Ectopic Calcification
40%
Amino Acid Metabolism
40%
Neuronopathic Gaucher Disease
40%
Inborn Errors
40%
Enzyme Replacement Therapy
40%
Chinese Subjects
40%
Functional Studies
40%
Hypercementosis
40%
Controlled Release Polymers
40%
Aneurysm Pathogenesis
40%
Antitumor Activity
40%
Aortic Root Aneurysm
40%
Vascular Calcification
40%
Hermansky-Pudlak Syndrome
40%
ATP-binding Cassette Transporter A1 (ABCA1)
40%
Fibroinflammatory Disease
40%
Specific Events
40%
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
40%
In Silico Study
40%
Connective Tissue Disease
40%
Medicine and Dentistry
Diseases
100%
Personalized Medicine
81%
Pseudoxanthoma Elasticum
81%
Chediak Higashi Syndrome
81%
Calcification
81%
Artery Calcification
81%
Blood Vessel Calcification
57%
Disease
57%
Adenosine
54%
Connective Tissue Disease
47%
Alkaline Phosphatase
40%
Autosomal Recessive Inheritance
40%
Liver Fibrosis
40%
Vascular Disease
40%
Adenosine Triphosphate
40%
Hypercementosis
40%
Ehlers Danlos Syndrome
40%
Hypophosphatemic Rickets
40%
Infancy
40%
Pulmonary Fibrosis
40%
Polycystic Kidney Disease
40%
Telomerase
40%
Fibroblast
40%
Pyrophosphate
34%
Disease
34%
Gaucher Disease Type 3
27%
Patient Care
25%
Marfan Syndrome
20%
Loeys-Dietz Syndrome
20%
Cell Mutant
20%
Patient Counseling
20%
Silo-Filler's Disease
18%
Trismus
16%
Hydroxychloroquine
16%
Proteomics
16%
C Reactive Protein
16%
Gene Expression Profiling
16%
Pathophysiology
15%
In Vitro
14%
Tricalcium Phosphate
13%
Mineralization
13%
Rickets
13%
Fibrocystin
13%
Virus Particle
13%
Hypophosphatemia
13%
Fibroblast Growth Factor 23
13%
Innate Immunity
13%
Dermatan Sulfate
13%
Hope
13%
Nucleic Acid
13%
Biochemistry, Genetics and Molecular Biology
Glucocerebrosidase
81%
Glucosylceramidase
81%
Genetics
75%
Adenosine
65%
Alkaline Phosphatase
65%
Candidate Gene
61%
Genetic Screening
61%
Fibroblast
48%
Dermatan Sulfate
40%
Amino Acid Metabolism
40%
Melanophilin
40%
C-Reactive Protein
40%
Ectopic Calcification
40%
Autosomal Recessive Inheritance
40%
Proteomics
40%
Clinical Trial
40%
Infancy
40%
Genome Sequencing
40%
NT5E
40%
Exome Sequencing
40%
Hermansky-Pudlak Syndrome
40%
Gene Expression Profiling
40%
Adenosine Triphosphate
40%
Pseudoxanthoma Elasticum
40%
Amino Acids
35%
Missense
30%
Exon
29%
Genotyping
24%
Chondroitin Sulfate
20%
Cell Proliferation
20%
Mineral Balance
20%
Fibroblast Growth Factor 23
20%
Liquid
20%
Cell Mutant
20%
Fibrocystin
20%
Tumor Necrosis Factor
20%
Tumor Necrosis Factor Alpha
20%
Germ Cell
20%
Germline
20%
Enzyme
19%
HPS1
18%
Proband
17%
Calcium Phosphate
16%
Adenosine Monophosphate
16%
Tricalcium Phosphate
16%
Rickets
13%
Mouse Model
13%
Albinism
13%
Messenger RNA
12%
Mutated Genes
10%
