Concepts (142)
Concepts are derived automatically from a person's publications.
In this concept 'cloud', the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person.
- Abnormalities, Multiple
- Acyltransferases
- Adaptor Proteins, Signal Transducing
- Adolescent
- Adult
- Age Factors
- Age of Onset
- Agenesis of Corpus Callosum
- Aicardi Syndrome
- Alleles
- Alopecia
- Ambulatory Care Facilities
- Amino Acid Metabolism, Inborn Errors
- Autism Spectrum Disorder
- Awareness
- Base Sequence
- Brain Diseases
- Cataract
- Cells, Cultured
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Chondrodysplasia Punctata
- Choroid Diseases
- Chromosome Deletion
- Chromosome Duplication
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 2
- Chromosomes, Human, X
- Community Health Workers
- Comparative Genomic Hybridization
- Craniosynostoses
- Curriculum
- Developmental Disabilities
- Disease Progression
- DNA Copy Number Variations
- DNA Mutational Analysis
- DNA Polymerase gamma
- DNA-Directed DNA Polymerase
- Dwarfism
- Dynamins
- Ectodermal Dysplasia
- Education
- Ehlers-Danlos Syndrome
- Exome
- Exons
- Eye Abnormalities
- Facial Bones
- Family Health
- Female
- Fibroblasts
- Financing, Personal
- Focal Dermal Hypoplasia
- Gene Dosage
- Genes, X-Linked
- Genetic Association Studies
- Genetic Counseling
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Genetic Testing
- Genome-Wide Association Study
- Genomics
- Glutarates
- GTP Phosphohydrolases
- Health Education
- Health Educators
- Health Knowledge, Attitudes, Practice
- Health Services Needs and Demand
- Health Surveys
- Healthcare Disparities
| - Hearing Loss, Sensorineural
- Heterozygote
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Inheritance Patterns
- Intellectual Disability
- Limb Deformities, Congenital
- Male
- MAP Kinase Kinase Kinases
- Medical History Taking
- Membrane Proteins
- Microarray Analysis
- Middle Aged
- Mitochondria
- Models, Molecular
- Molecular Sequence Data
- Mosaicism
- Muscle Weakness
- Muscles
- Muscular Atrophy
- Mutation
- Mutation, Missense
- Needs Assessment
- Neoplasms
- Nervous System Malformations
- Office Visits
- Optic Nerve Diseases
- Ovarian Diseases
- Ovary
- Parents
- Patient Education as Topic
- Patient Satisfaction
- Perception
- Peroxisomes
- Phenotype
- Pilot Projects
- Point Mutation
- Polymorphism, Single Nucleotide
- Prospective Studies
- Proteasome Endopeptidase Complex
- Psychometrics
- Pupil Disorders
- Quality Improvement
- Receptors, Androgen
- Referral and Consultation
- Reproducibility of Results
- Retinal Diseases
- Retrospective Studies
- Seizures
- Self Efficacy
- Sequence Analysis, DNA
- Sequence Deletion
- Sex Chromosome Aberrations
- Sex Chromosome Disorders
- Signal Transduction
- Skin
- Socioeconomic Factors
- Spasms, Infantile
- Steroid Isomerases
- Surveys and Questionnaires
- Survival Analysis
- Syndrome
- T-Box Domain Proteins
- Texas
- Trans-Activators
- United States
- Wnt Proteins
- X Chromosome Inactivation
- Young Adult
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Concepts
(142)
Derived automatically from this person's publications.
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(35)
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(60)
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