Keyphrases
5′-untranslated Region (5′-UTR)
5%
Abnormal Uterine Bleeding
11%
Added Benefit
5%
ANKRD26
11%
ANKRD26-related Thrombocytopenia
8%
ANO6
11%
Autosomal Recessive Inheritance
5%
Bioinformatics pipeline
5%
Bleeding
26%
Bleeding Diathesis
7%
Bleeding Disorders
11%
Bleeding Events
5%
Bleeding Score
5%
Bleeding Tendency
5%
Blood Vessels
5%
C-type Lectin-like Receptor 2
11%
Clinical Interpretation
5%
Clinically Significant Bleeding
5%
Coagulation Proteins
5%
Copy number
11%
Copy number Analysis
5%
Copy number Variation
11%
Degree Heterogeneity
5%
Dense Granule Secretion
11%
Detection Rate
11%
Disease-causing mutations
11%
DNA Analysis
5%
Endoribonuclease
11%
Excessive Bleeding
26%
Exome Sequencing
11%
Expression Data
11%
FLI1
11%
Functional Characterization
11%
Gene Panel
8%
Gene Panel Sequencing
11%
Gene Variants
11%
Genetic Causes
13%
Genetic Defects
5%
Genetic Diagnosis
27%
Genetic Disease
5%
Genetic Testing
11%
Genetic Variants
34%
Genetic Variation
5%
Glycoprotein
5%
Hematological Malignancies
5%
Heterogeneous Groups
15%
Heterozygous Variant
11%
High-throughput Sequencing
11%
Hyporesponsiveness
11%
Immune Thrombocytopenia
11%
Inherited Bleeding Disorders
11%
Inherited Platelet Disorders
36%
Inherited Thrombocytopenia
41%
Integrated Bioinformatics Analysis
11%
Integrin
6%
Light Transmission Aggregometry
8%
Likely Pathogenic Variant
5%
Low Platelet Count
7%
Megakaryocyte Differentiation
7%
Megakaryocyte Maturation
12%
Megakaryocytes
5%
Metagenomic Next-generation Sequencing (mNGS)
11%
Natural History
11%
Neonatal Platelets
11%
New Patients
11%
Next-generation Sequencing
16%
Normal Pattern
5%
Novel Genes
24%
Novel Variants
6%
Pathogenic Genetic Variants
11%
Pathogenic Variants
5%
Platelet Aggregation
5%
Platelet Count
31%
Platelet Defects
14%
Platelet Dense Granules
11%
Platelet Dysfunction
22%
Platelet Formation
5%
Platelet Function
32%
Platelet Function Defect
11%
Platelet Function Disorders
18%
Platelet Production
6%
Platelet Secretion Defects
11%
Platelets
86%
Point mutation
5%
Post-traumatic
5%
Proplatelet Formation
11%
Recent Advances
5%
Recurrent mutation
5%
RNA Sequencing (RNA-seq)
11%
Runt-related Transcription Factor 1 (RUNX1)
5%
RUNX1 mutation
11%
Schlafen
11%
Scott Syndrome
11%
Secretion Defect
11%
Sequence Modification
5%
Sequence number
11%
Single nucleotide
11%
SLFN14
11%
Stop Codon
5%
Thrombin Generation
6%
Thrombocytopenia
26%
Thrombomodulin
11%
Truncation
5%
Uncertain Significance
5%
Variants of Uncertain Significance
5%
Whole Blood
8%
Whole Exome Sequencing
49%
Biochemistry, Genetics and Molecular Biology
Adenosine Triphosphate
6%
Agonist
12%
Bioinformatics
19%
Bleeding Diathesis
5%
Candidate Gene
6%
Copy-Number Variation
7%
Endoribonuclease
11%
Exome Sequencing
45%
FLI1
11%
Genetic Divergence
28%
Genetic Screening
11%
Genetics
37%
Genitoanal Papilloma Virus Infection
11%
Genomics
11%
Genotyping
18%
Idiopathic Thrombocytopenic Purpura
14%
Maturation
7%
Megakaryocyte
9%
Missense Mutation
6%
Next Generation Sequencing
26%
Platelet
100%
Platelet Count
26%
Ribonuclease
11%
Ribosomal RNA
7%
RUNX1
11%
Secretion (Process)
15%
Thrombocyte Function
35%
Thrombocyte Release Reaction
11%
Thrombocytopenia
49%
Thrombomodulin
11%
Thrombopoiesis
10%
Medicine and Dentistry
Bleeding
19%
Bleeding Diathesis
10%
Bleeding Disorder
5%
Disease
13%
Diseases
7%
Exome Sequencing
24%
Genetic Screening
11%
Maturation
11%
Megakaryocyte
18%
Menorrhagia
11%
Next Generation Sequencing
13%
Phosphatidylserine
7%
Platelet
67%
Platelet Disorder
36%
Prevalence
12%
Scott Syndrome
11%
Thrombin
7%
Thrombocyte Anomaly
11%
Thrombocyte Function
39%
Thrombocyte Lifespan
11%
Thrombocytopenia
22%
Thrombocytopoiesis
11%
Thrombomodulin
11%