Concepts (86)
Concepts are derived automatically from a person's publications.
Concepts are listed by decreasing relevance which is based on many factors, including how many publications the person wrote about that topic, how long ago those publications were written, and how many publications other people have written on that same topic.
| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Mucolipidoses | 1 | 2021 | 7 | 0.750 |
Why?
|
| Interferon Regulatory Factors | 1 | 2015 | 37 | 0.480 |
Why?
|
| Cleft Lip | 1 | 2015 | 125 | 0.420 |
Why?
|
| Cleft Palate | 1 | 2015 | 142 | 0.420 |
Why?
|
| Pediatrics | 1 | 2021 | 1158 | 0.380 |
Why?
|
| Neurodevelopmental Disorders | 2 | 2021 | 501 | 0.250 |
Why?
|
| Intellectual Disability | 2 | 2022 | 1054 | 0.220 |
Why?
|
| Brain Diseases, Metabolic | 1 | 2023 | 12 | 0.210 |
Why?
|
| Ubiquitin-Protein Ligases | 2 | 2022 | 359 | 0.190 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 1 | 2023 | 101 | 0.190 |
Why?
|
| Ketoglutarate Dehydrogenase Complex | 1 | 2021 | 13 | 0.190 |
Why?
|
| Micrognathism | 1 | 2022 | 65 | 0.190 |
Why?
|
| Dwarfism | 1 | 2022 | 97 | 0.180 |
Why?
|
| Moyamoya Disease | 1 | 2021 | 38 | 0.180 |
Why?
|
| Mediator Complex | 1 | 2020 | 52 | 0.170 |
Why?
|
| Hearing Loss | 1 | 2021 | 136 | 0.170 |
Why?
|
| Aortic Diseases | 1 | 2022 | 197 | 0.170 |
Why?
|
| Adenosine Triphosphatases | 1 | 2021 | 202 | 0.170 |
Why?
|
| Ataxia | 1 | 2021 | 170 | 0.170 |
Why?
|
| Mental Retardation, X-Linked | 1 | 2020 | 71 | 0.170 |
Why?
|
| History, 20th Century | 1 | 2021 | 384 | 0.160 |
Why?
|
| Vision Disorders | 1 | 2021 | 211 | 0.160 |
Why?
|
| Skin Diseases | 1 | 2021 | 129 | 0.160 |
Why?
|
| Hepatoblastoma | 1 | 2022 | 180 | 0.160 |
Why?
|
| Cataract | 1 | 2022 | 223 | 0.160 |
Why?
|
| Periodicals as Topic | 1 | 2021 | 197 | 0.150 |
Why?
|
| Neurofibromatosis 1 | 1 | 2019 | 63 | 0.150 |
Why?
|
| DNA Mutational Analysis | 2 | 2021 | 809 | 0.140 |
Why?
|
| Vitamin B 12 Deficiency | 1 | 2017 | 42 | 0.130 |
Why?
|
| Kidney Diseases | 1 | 2021 | 485 | 0.130 |
Why?
|
| Telemedicine | 1 | 2022 | 438 | 0.130 |
Why?
|
| Fetus | 1 | 2019 | 586 | 0.120 |
Why?
|
| Neonatal Screening | 1 | 2017 | 186 | 0.120 |
Why?
|
| Aortic Aneurysm, Thoracic | 1 | 2022 | 662 | 0.110 |
Why?
|
| Cardiomyopathies | 1 | 2019 | 500 | 0.110 |
Why?
|
| Epilepsy | 1 | 2021 | 874 | 0.110 |
Why?
|
| Liver Neoplasms | 1 | 2022 | 1316 | 0.090 |
Why?
|
| Mutation | 2 | 2021 | 5903 | 0.090 |
Why?
|
| Humans | 11 | 2023 | 125439 | 0.080 |
Why?
|
| Genetic Testing | 1 | 2015 | 1016 | 0.080 |
Why?
|
| Syndrome | 2 | 2022 | 1122 | 0.080 |
Why?
|
| Retrospective Studies | 4 | 2023 | 16362 | 0.070 |
Why?
|
| Infant | 3 | 2021 | 12597 | 0.070 |
Why?
|
| Phenotype | 3 | 2022 | 4269 | 0.070 |
Why?
|
| Female | 7 | 2022 | 66888 | 0.060 |
Why?
|
| Male | 6 | 2022 | 61628 | 0.060 |
Why?
|
| Glutaryl-CoA Dehydrogenase | 1 | 2023 | 3 | 0.050 |
Why?
|
| Infant, Newborn | 3 | 2023 | 8268 | 0.050 |
Why?
|
| Glutarates | 1 | 2023 | 37 | 0.050 |
Why?
|
| Transaminases | 1 | 2021 | 32 | 0.050 |
Why?
|
| Creatinine | 1 | 2023 | 394 | 0.050 |
Why?
|
| Family Health | 1 | 2021 | 259 | 0.040 |
Why?
|
| Genes, X-Linked | 1 | 2020 | 59 | 0.040 |
Why?
|
| RNA Splicing | 1 | 2021 | 229 | 0.040 |
Why?
|
| Cohort Studies | 2 | 2021 | 4843 | 0.040 |
Why?
|
| Fetal Growth Retardation | 1 | 2022 | 238 | 0.040 |
Why?
|
| Neovascularization, Physiologic | 1 | 2021 | 212 | 0.040 |
Why?
|
| Neurofibromin 1 | 1 | 2019 | 42 | 0.040 |
Why?
|
| Aorta | 1 | 2022 | 545 | 0.040 |
Why?
|
| Patient Satisfaction | 1 | 2022 | 475 | 0.040 |
Why?
|
| Hypertrophy, Left Ventricular | 1 | 2019 | 111 | 0.040 |
Why?
|
| Child | 3 | 2022 | 24606 | 0.030 |
Why?
|
| Fibroblasts | 1 | 2021 | 887 | 0.030 |
Why?
|
| Methylmalonic Acid | 1 | 2017 | 15 | 0.030 |
Why?
|
| Alleles | 1 | 2021 | 1617 | 0.030 |
Why?
|
| Radiography | 1 | 2019 | 809 | 0.030 |
Why?
|
| Methionine | 1 | 2017 | 102 | 0.030 |
Why?
|
| Neurocognitive Disorders | 1 | 2017 | 68 | 0.030 |
Why?
|
| Homocysteine | 1 | 2017 | 115 | 0.030 |
Why?
|
| Drosophila melanogaster | 1 | 2021 | 771 | 0.030 |
Why?
|
| Intensive Care Units, Neonatal | 1 | 2019 | 316 | 0.030 |
Why?
|
| Mutation, Missense | 1 | 2020 | 879 | 0.030 |
Why?
|
| Cells, Cultured | 1 | 2021 | 3043 | 0.030 |
Why?
|
| Pregnancy Outcome | 1 | 2019 | 595 | 0.030 |
Why?
|
| Secondary Prevention | 1 | 2017 | 217 | 0.030 |
Why?
|
| Dietary Proteins | 1 | 2017 | 252 | 0.030 |
Why?
|
| Prenatal Diagnosis | 1 | 2019 | 600 | 0.030 |
Why?
|
| Biomarkers | 1 | 2023 | 3104 | 0.030 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2019 | 972 | 0.030 |
Why?
|
| Genotype | 1 | 2019 | 2569 | 0.030 |
Why?
|
| Longitudinal Studies | 1 | 2017 | 1333 | 0.030 |
Why?
|
| Surveys and Questionnaires | 1 | 2022 | 3743 | 0.020 |
Why?
|
| Genetic Predisposition to Disease | 1 | 2021 | 3175 | 0.020 |
Why?
|
| Treatment Outcome | 1 | 2022 | 12303 | 0.020 |
Why?
|
| Pregnancy | 1 | 2019 | 7222 | 0.020 |
Why?
|
| Animals | 1 | 2021 | 34310 | 0.010 |
Why?
|