Keyphrases
Monogenic
90%
Germ Cells
80%
Genetic Testing
61%
Receptor Subtypes
54%
Prolactin Receptor
54%
Multiple Endocrine Neoplasia Type 1 (MEN1)
54%
Primary Hyperparathyroidism (pHPT)
45%
Pathogenicity
45%
DNA Sequencing
41%
Single-point mutation
36%
Penetrance
36%
Appropriate Management
36%
Clinical Genetic Testing
34%
Missense
32%
Endocrine Disorders
31%
Hyperprolactinemia
31%
Genetic Basis
29%
Prolactinoma
29%
Endocrine Tumor Syndrome
27%
Computational Prediction Tools
27%
Metabolic Bone Disease
27%
Surveillance Guidelines
27%
Paraganglioma
27%
Endocrinology
27%
Pheochromocytoma
27%
Gene Function
27%
Polygenic Disorder
27%
Oligogenic Disease
27%
Receptor Signaling
27%
Gene-specific
27%
Population Level
27%
Induced Pluripotent Stem Cells (iPSCs)
27%
Adult Patients
27%
Disease Model
27%
CreERT2
27%
Missense Variants
27%
Cell-type-specific Gene Expression
27%
Specific Applications
27%
Calcium Metabolism
27%
Genetic Approach
27%
Skeletal Disorders
27%
Nonfunctional Pancreatic Neuroendocrine Tumor
27%
Bone Metabolism
27%
Rethink
27%
Single nucleotide Variant
27%
Pathogenic Variants
25%
Endocrine Tumors
23%
GnomAD
22%
Molecular Genetic Testing
22%
Disease Penetrance
21%
Variants of Uncertain Significance
20%
Menin
20%
Cassette
20%
Variant Interpretation
19%
Prediction Tool
18%
Variant Effect Prediction
18%
Calcium Homeostasis
18%
Primary Hypoparathyroidism
18%
Metabolic Bone Disorders
18%
Skeletal Homeostasis
18%
Skeletal Imaging
18%
Inappropriate Use
18%
Mendelian Disease
18%
Clinical Evaluation
18%
Environmental Factors
18%
Vitamin D Metabolites
18%
Calcium Phosphate
18%
Tumor
17%
Clinical Utility
15%
Disease Risk
15%
Rare Variants
13%
Gene Variants
13%
Pluripotency
13%
Cre Recombinase
13%
Coding Region
13%
Tumor-related Genes
13%
Pdx1
13%
MEN1 Gene
13%
Protein Structure
13%
Physiologically Relevant
13%
Tumorigenesis
13%
Variant Pathogenicity
12%
Pituitary Tumor
12%
Breast Cancer
11%
Bone Fracture
11%
Cardiovascular Disease
11%
Serum Prolactin
11%
Surveillance Testing
11%
Endocrinopathy
11%
Family Members
11%
Misclassification
11%
Metabolic Bone
9%
Exome Aggregation Consortium
9%
High Penetrance
9%
Clinically Significant
9%
Penetrant
9%
Rare Variation
9%
Diverse Groups
9%
Practical Guide
9%
Image Evaluation
9%
Complex Syndrome
9%
Genetic Variation
9%
Oligogenic
9%
History Taking
9%
Clinical Assessment
9%
Clinical Significance
9%
Genetic Etiology
9%
Monogenic Etiology
9%
Endocrinologist
9%
Circulating Concentration
9%
Genetic Variants
9%
Mineral Disorders
9%
Imaging Investigations
9%
Clinical Features
9%
Clinical Diagnosis
8%
Gain-of-function mutation
8%
Background Population
8%
Diabetes Risk
7%
Infectious Diseases
7%
Population-based
7%
Familial Hyperparathyroidism
7%
Tumor Syndrome
7%
Kindred
7%
Pancreatic Endoderm
6%
Nkx6.1
6%
PiggyBac
6%
Gene Integration
6%
Embryoid Body Formation
6%
Epigenetic Modulation
6%
Rhapsody
6%
Successful Implementation
6%
Relevant Protein
6%
Custom Design
6%
Targeted Cells
6%
AlphaFold
6%
Immunocytochemistry
6%
Multiple Pathways
6%
Deleterious Variants
6%
Multiple Genes
6%
Diagnostic Uncertainty
6%
Stable Integration
6%
Significant Harm
6%
Protein Data Bank
6%
Exon 2
6%
Cellular Processes
6%
Patient's Family
6%
High Performance
6%
Publicly Available
6%
Repair Template
6%
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)
6%
Stem Cell Lines
6%
Discriminatory Ability
6%
Biallelic
6%
Statistical Measures
6%
Guide RNA (gRNA)
6%
Pluripotency Markers
6%
Interpretation Method
6%
Ill-defined
6%
RNA Sequencing (RNA-seq)
6%
Sequence-based
6%
Western Blot
6%
Scaffold Protein
6%
Cell Population
6%
Tumor Suppressor
6%
Specific Genes
6%
Large Families
6%
Pancreatic Progenitors
6%
Epigenetic Regulation
6%
Signaling Pathway
6%
ClinVar
6%
Tumor Biology
6%
Targeting Strategies
6%
Drug Discovery
6%
Invertible
6%
Benign Variants
6%
Computational Tools
6%
Undifferentiated Cells
6%
SRY-box Transcription Factor 9 (SOX9)
6%
In Silico Tools
6%
Cellular Environment
6%
Gain-of-function
6%
Intracellular Domain
6%
Tumor Behavior
6%
Clinical Management
5%
Medicine and Dentistry
Disease
92%
Multiple Endocrine Neoplasia Type I
54%
Prolactin Receptor
54%
Monogenic Disorder
51%
Genetic Screening
45%
Germ Cell
37%
Neoplasm
37%
Primary Hyperparathyroidism
36%
Clinical Genetics
34%
Clinician
29%
Prolactinoma
29%
Disorders of Calcium Metabolism
27%
Pancreas Islet Cell Tumor
27%
Endocrinology
27%
Bone Disease
27%
Endocrine Tumor Syndromes
27%
Metabolic Bone Disease
27%
Gene Function
27%
Single Nucleotide Polymorphism
27%
Receptor
27%
Induced Pluripotent Stem Cell
27%
Disease Model
27%
Methionine
27%
Bone Remodeling
27%
Endocrine Tumor
25%
Somatics
22%
Gene Mutation
19%
Tamoxifen
18%
Cre Recombinase
18%
Carcinogenesis
18%
Isotopes of Calcium
14%
Pathogenicity
13%
Protein Structure
13%
Tumor Gene
13%
Endocrine Disease
10%
DNA Sequence
10%
Diagnosis
10%
Cancer Syndrome
10%
Skeletal Homeostasis
9%
Physical Disease by Body Function
9%
Physical Examination
9%
Environmental Factor
9%
Metabolite
9%
Vitamin D
9%
Clinical Trial
9%
Embryoid Body
9%
Endocrine Development
9%
Hypoparathyroidism
9%
Calcium Homeostasis
9%
DNA Template
9%
RNA Sequence
9%
Exon
9%
Scaffold Protein
9%
Signal Transduction
9%
Pluripotent Stem Cell Line
9%
Cell Population
9%
Immunocytochemistry
9%
Tumor Biology
9%
Cell Line
9%
Cas9
9%
Clustered Regularly Interspaced Short Palindromic Repeat
9%
Endoderm
9%
Tumor Suppressor Protein
9%
Western Blotting
9%
Penetrance
8%
Hyperparathyroidism
7%
In Silico
6%
Southern District Health Board
6%
Surgery
6%
Clinical Management
5%
Clinical Assessment
5%
Anamnesis
5%
Biochemistry, Genetics and Molecular Biology
Germ Cell
100%
Germline
100%
Genetics
95%
Genetic Screening
76%
Penetrance
68%
Gene Mutation
54%
Prolactin Receptor
54%
DNA Sequence
41%
Missense
41%
MEN1
34%
Single-Nucleotide Polymorphism
34%
Molecular Genetics
27%
Disorders of Calcium Metabolism
27%
Genetic Approach
27%
Homeostasis
27%
Metabolite
27%
Gene Function
27%
SDHA
27%
GNA11
27%
Vitamin D
27%
Genetic Test
27%
Induced Pluripotent Stem Cell
27%
Calcium Phosphate
27%
Autosomal Dominant Inheritance
27%
Bone Remodeling
27%
Clinical Trial
22%
Coding Region
20%
Calcium Homeostasis
18%
Tumor Gene
13%
Exome
13%
Protein Structure
13%
Genetic Variation
13%
Genetic Divergence
13%
Methionine
11%
STAT5
8%
Carcinogenesis
7%
PDX1
7%
Allele
7%
Cre Recombinase
7%
Transcription
7%
SDHB
6%
Genetic Conservation
6%
Clinical Decision Making
6%
Population
6%
Prevalence
6%
Protein Data Bank
6%
Wild Type
5%