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
- Adolescent
- Adult
- Age of Onset
- Aged
- Alleles
- Alternative Splicing
- Amino Acid Sequence
- Amino Acids
- Animals
- Anticonvulsants
- Antineoplastic Agents
- Astrocytoma
- Attention Deficit Disorder with Hyperactivity
- Australia
- Base Sequence
- Basic Helix-Loop-Helix Transcription Factors
- Biopsy
- Brain
- Brain Diseases
- Caregivers
- Cells, Cultured
- Cerebral Palsy
- Child
- Child, Preschool
- China
- Chromatin
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 22
- Codon, Nonsense
- Cognition
- Cognition Disorders
- Cohort Studies
- Comparative Genomic Hybridization
- Corpus Callosum
- Cranial Sutures
- Craniofacial Abnormalities
- Craniosynostoses
- Databases, Genetic
- DEAD-box RNA Helicases
- Developmental Disabilities
- DNA
- DNA Copy Number Variations
- DNA Mutational Analysis
- DNA Polymerase III
- DNA-Binding Proteins
- Dwarfism
- Ehlers-Danlos Syndrome
- Ephrin-B1
- Epilepsy
- Exons
- Face
- Facies
- Family Health
- Female
- Fibroblast Growth Factor 10
- Fibroblasts
- Foot Deformities, Congenital
- Forkhead Transcription Factors
- Frameshift Mutation
- Gene Deletion
- Genes, Lethal
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Genome, Human
- Genomic Imprinting
- Genotype
| - GTPase-Activating Proteins
- Hand Deformities, Congenital
- Haploinsufficiency
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Histone-Lysine N-Methyltransferase
- Histones
- Humans
- Infant
- Infant, Newborn
- Introns
- Iron-Sulfur Proteins
- Kyphosis
- Language Development Disorders
- Limb Deformities, Congenital
- Lipodystrophy
- Magnetic Resonance Imaging
- Male
- Mediator Complex
- Membrane Proteins
- Mice
- Microarray Analysis
- Middle Aged
- Molecular Sequence Data
- Muscle Hypotonia
- Mutation
- Mutation, Missense
- Nerve Tissue Proteins
- New Zealand
- Nuclear Proteins
- Orofaciodigital Syndromes
- Pathology, Molecular
- Pedigree
- Persistent Fetal Circulation Syndrome
- Phenotype
- Pierre Robin Syndrome
- Point Mutation
- Polymorphism, Genetic
- Population Surveillance
- Practice Guidelines as Topic
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
- Prospective Studies
- Protein Conformation
- Proteins
- Pulmonary Alveoli
- Pulmonary Veins
- Receptor, Fibroblast Growth Factor, Type 1
- Repressor Proteins
- Retrospective Studies
- Risk Factors
- RNA-Binding Proteins
- Scoliosis
- Self Report
- Sequence Analysis, DNA
- Sequence Deletion
- Signal Transduction
- Sirolimus
- Skin
- Societies, Medical
- Spastic Paraplegia, Hereditary
- Syndrome
- TOR Serine-Threonine Kinases
- Transcription Factors
- Treatment Outcome
- Tuberous Sclerosis
- Tumor Suppressor Proteins
- United States
- Urogenital Abnormalities
- X Chromosome Inactivation
- Young Adult
- Zebrafish
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Concepts
(142)
Derived automatically from this person's publications.
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Co-Authors
(60)
People in Profiles who have published with this person.
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Similar People
(60)
People who share similar concepts with this person.
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Same Department
People in same department with this person.
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