Keyphrases
Tumor Necrosis Factor-α
100%
Multisystem Disease
100%
Developmental Delay
100%
Phenotypic Spectrum
100%
Biallelic
100%
Autonomic Nervous System
66%
Epidermal Growth Factor
66%
Cancer-associated Fibroblasts
66%
Sensory Nervous System
66%
Vesicle Trafficking
66%
Severe Developmental Delay
66%
Mitogen-activated Protein Kinase
33%
Endocrine Glands
33%
Phosphorylation
33%
Apoptosis
33%
Signaling Pathway
33%
Next-generation Sequencing
33%
Cellular Dysfunction
33%
Cell Behavior
33%
Seizure
33%
Cell Death
33%
Physiological Role
33%
Signaling Molecules
33%
Fibroblasts
33%
First Year of Life
33%
Clinical Manifestations
33%
Multiple Organs
33%
Clinical Course
33%
Caspase-3
33%
Extracellular Signal-regulated Kinase 1/2
33%
Control Cell
33%
Patient Cells
33%
Hypotonia
33%
Endocytosis
33%
Fibroblast Cell Line
33%
Endocrine Disorders
33%
Small GTPase
33%
Relative Quantification
33%
Pro-apoptotic
33%
Neurological Findings
33%
Death Domain
33%
Speech Impairment
33%
Functional Test
33%
GeneMatcher
33%
Neurological Phenotype
33%
Rab27a
33%
Rab3
33%
Exocrine Dysfunction
33%
National Collaboration
33%
Hematological Findings
33%
Exocrine Glands
33%
Medicine and Dentistry
Developmental Delay
100%
Tumor Necrosis
100%
Diseases
100%
Autonomic Nervous System
66%
Epidermal Growth Factor
66%
Messenger RNA
66%
Fibroblast
66%
Epileptic Seizure
33%
Cell Death
33%
Signaling Molecule
33%
Programmed Cell Death
33%
Cell Function
33%
Disease Course
33%
Next Generation Sequencing
33%
Mitogen Activated Protein Kinase 3
33%
Mitogen-Activated Protein Kinase
33%
Hypotonia
33%
Organ Systems
33%
Fibroblast Cell Line
33%
Caspase 3
33%
Cell Signaling Pathway
33%
Endocytosis
33%
Internalization
33%
Death Domain
33%
Mitogen Activated Protein Kinase 1
33%
Comorbidity
33%
Speech Disorder
33%
Small GTPase
33%
Exocrine Gland
33%
Endocrine Gland
33%
Neuroscience
Tumor Necrosis Factor Alpha
100%
Fibroblast
100%
Autonomic Nervous System
66%
Epidermal Growth Factor
66%
Messenger RNA
66%
Cell Death
33%
Internalization
33%
Mitogen-Activated Protein Kinase
33%
Cell Line
33%
Cell Function
33%
Caspase 3
33%
Hypotonia
33%
Endocytosis
33%
Extracellular Signal-Regulated Kinases
33%
Death Domain
33%
Exocrine Gland
33%
Comorbidity
33%
Endocrine Gland
33%
Programmed Cell Death
33%
Immunology and Microbiology
Tumor Necrosis Factor Alpha
100%
Epidermal Growth Factor
66%
Autonomic Nervous System
66%
Fibroblast
66%
Next Generation Sequencing
33%
Cell Function
33%
Cell Death
33%
Mitogen
33%
Caspase
33%
Internalization
33%
Fibroblast Cell Line
33%
Organ Systems
33%
Endocytosis
33%
Death Domain
33%
Exocrine Gland
33%
Comorbidity
33%
Endocrine Gland
33%
Programmed Cell Death
33%
Biochemistry, Genetics and Molecular Biology
Tumor Necrosis Factor Alpha
100%
Fibroblast
100%
Epidermal Growth Factor
66%
Messenger RNA
66%
Mitogen-Activated Protein Kinase
33%
Enzyme
33%
Cell Function
33%
Next Generation Sequencing
33%
Cell Death
33%
Internalization
33%
Caspase 3
33%
Endocytosis
33%
Death Domain
33%
Extracellular Signal-Regulated Kinases
33%
Comorbidity
33%
Programmed Cell Death
33%
Small GTPase
33%
Pharmacology, Toxicology and Pharmaceutical Science
Developmental Delay
100%
Tumor Necrosis
100%
Diseases
100%
Epidermal Growth Factor
66%
Messenger RNA
66%
Mitogen Activated Protein Kinase
33%
Caspase 3
33%
Disease Course
33%
Multiple Organ Failure
33%
Mitogen Activated Protein Kinase 1
33%
Mitogen Activated Protein Kinase 3
33%
Muscle Hypotonia
33%
Speech Disorder
33%