Concepts (205)
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.
- 17-alpha-Hydroxyprogesterone
- Abdomen
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenase, Long-Chain
- Adenosine Triphosphatases
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adrenal Insufficiency
- Adrenoleukodystrophy
- Adult
- Age of Onset
- Aged
- Algorithms
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Amino Acids
- Ammonia
- Anemia, Megaloblastic
- Arteriovenous Malformations
- Base Sequence
- Biopsy
- Blood Chemical Analysis
- Blood Specimen Collection
- Bone and Bones
- Brain
- Brain Abscess
- Brain Diseases
- Carboxylic Ester Hydrolases
- Carcinoma, Hepatocellular
- Carnitine
- Cervical Vertebrae
- Child
- Child, Preschool
- Chorea
- Chromatin Assembly and Disassembly
- Chromatography, Liquid
- Clinical Laboratory Techniques
- Cohort Studies
- Comparative Genomic Hybridization
- Computational Biology
- Congenital Hypothyroidism
- Contracture
- Corneal Opacity
- Craniosynostoses
- Cutis Laxa
- Cyanosis
- Cystic Fibrosis
- Data Interpretation, Statistical
- Databases, Factual
- Deafness
- Death, Sudden
- Deoxycytidine
- Developmental Disabilities
- Diabetes Mellitus
- Diagnosis, Differential
- Diarrhea
- DNA
- DNA Helicases
- DNA Mutational Analysis
- Early Diagnosis
- Ectodermal Dysplasia
- Epilepsy
- Epistaxis
- Evidence-Based Medicine
- False Negative Reactions
- False Positive Reactions
- Fatal Outcome
- Fatty Liver
- Female
- Follow-Up Studies
- Fusobacterium Infections
- Fusobacterium nucleatum
- Gene Expression
- Genes, Dominant
- Genes, Recessive
- Genes, T-Cell Receptor
- Genetic Association Studies
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genetic Variation
- Genotype
- Glucosephosphate Dehydrogenase Deficiency
- Glutarates
- Growth Hormone
- Gyrus Cinguli
- Health Plan Implementation
- Hearing Loss, Sensorineural
- HEK293 Cells
- Hematologic Tests
- Hematopoietic Stem Cell Transplantation
- Hemoglobinopathies
- Heptanoates
- Heterozygote
- Histiocytosis
- Homocystinuria
- Homozygote
- Humans
- Hyperammonemia
- Hyperhomocysteinemia
- Hypothyroidism
- Iduronidase
- Incidence
| - India
- Infant
- Infant, Newborn
- Infant, Newborn, Diseases
- Infant, Premature
- Intellectual Disability
- International Cooperation
- Joint Instability
- Jumonji Domain-Containing Histone Demethylases
- Karyotyping
- Language Disorders
- Leukodystrophy, Globoid Cell
- Leukoencephalopathies
- Lipid Metabolism, Inborn Errors
- Liver
- Liver Diseases
- Liver Failure, Acute
- Liver Neoplasms
- Lysosomal Storage Diseases
- Magnetic Resonance Imaging
- Male
- Mass Spectrometry
- Massachusetts
- Megalencephaly
- Membrane Transport Proteins
- Metabolic Diseases
- Metabolism, Inborn Errors
- Metabolome
- Methylenetetrahydrofolate Reductase (NADPH2)
- Mi-2 Nucleosome Remodeling and Deacetylase Complex
- Microcephaly
- Middle Aged
- Minnesota
- Models, Molecular
- Molecular Sequence Data
- Mucopolysaccharidosis I
- Multiple Sclerosis
- Multivariate Analysis
- Muscle Weakness
- Mutation
- Mutation, Missense
- Neonatal Screening
- Nerve Fibers, Myelinated
- Neurodevelopmental Disorders
- New England
- Optic Atrophy
- Organoplatinum Compounds
- Ornithine Carbamoyltransferase Deficiency Disease
- Ornithine-Oxo-Acid Transaminase
- Paper
- Pattern Recognition, Automated
- Pedigree
- Phenotype
- Pilot Projects
- Practice Guidelines as Topic
- Predictive Value of Tests
- Prognosis
- Program Development
- Program Evaluation
- Proline
- Protein Domains
- Proteins
- Public Health Practice
- Pulmonary Artery
- Pulmonary Veins
- Quality Assurance, Health Care
- Quality Indicators, Health Care
- Receptors, Antigen, T-Cell
- Reference Values
- Reproducibility of Results
- Retrospective Studies
- Seizures
- Sensitivity and Specificity
- Sequence Alignment
- Sequence Analysis, DNA
- Severe Combined Immunodeficiency
- Severity of Illness Index
- Siblings
- Skin
- Software
- Spastic Paraplegia, Hereditary
- Species Specificity
- Speech Disorders
- Spinal Diseases
- Streptococcal Infections
- Streptococcus anginosus
- Survival Analysis
- Syndrome
- Tandem Mass Spectrometry
- Telangiectasia, Hereditary Hemorrhagic
- Thiamine
- Thyroxine
- Tomography, X-Ray Computed
- Tyrosinemias
- Ultrasonography
- Up-Regulation
- Urea
- Urea Cycle Disorders, Inborn
- Venous Thrombosis
- Vitamin B Complex
- Whole Genome Sequencing
- Young Adult
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Concepts
(205)
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