Name | Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Phenylketonurias | 7 | 2024 | 123 | 1.860 |
Why?
|
Phenylalanine Ammonia-Lyase | 4 | 2022 | 11 | 1.250 |
Why?
|
Abnormalities, Multiple | 5 | 2017 | 1415 | 0.740 |
Why?
|
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor | 1 | 2017 | 11 | 0.610 |
Why?
|
Aspartate-Ammonia Ligase | 1 | 2017 | 18 | 0.610 |
Why?
|
Lipid Metabolism, Inborn Errors | 1 | 2017 | 120 | 0.560 |
Why?
|
Chromosome Deletion | 5 | 2018 | 1387 | 0.560 |
Why?
|
Oxidoreductases Acting on CH-CH Group Donors | 1 | 2017 | 174 | 0.540 |
Why?
|
Amino Acid Metabolism, Inborn Errors | 1 | 2017 | 282 | 0.480 |
Why?
|
Developmental Disabilities | 3 | 2017 | 1504 | 0.450 |
Why?
|
Tooth Abnormalities | 1 | 2012 | 56 | 0.400 |
Why?
|
Phenylalanine | 3 | 2024 | 365 | 0.390 |
Why?
|
Bone Diseases, Developmental | 1 | 2012 | 131 | 0.370 |
Why?
|
Chromosomes, Human, Pair 16 | 1 | 2012 | 342 | 0.350 |
Why?
|
Seizures | 1 | 2017 | 2917 | 0.240 |
Why?
|
Nerve Tissue Proteins | 1 | 2017 | 4408 | 0.240 |
Why?
|
Phenylalanine Hydroxylase | 1 | 2024 | 28 | 0.240 |
Why?
|
Lethargy | 1 | 2024 | 44 | 0.240 |
Why?
|
Jaundice | 1 | 2024 | 97 | 0.230 |
Why?
|
Homozygote | 2 | 2017 | 1788 | 0.210 |
Why?
|
Liver Failure, Acute | 1 | 2024 | 181 | 0.210 |
Why?
|
Microcephaly | 2 | 2024 | 425 | 0.200 |
Why?
|
Acidosis, Lactic | 1 | 2023 | 145 | 0.200 |
Why?
|
Mutation | 5 | 2018 | 29957 | 0.190 |
Why?
|
Vomiting | 1 | 2024 | 650 | 0.190 |
Why?
|
Vacuolar Proton-Translocating ATPases | 1 | 2022 | 196 | 0.180 |
Why?
|
Repressor Proteins | 1 | 2012 | 2982 | 0.180 |
Why?
|
Pedigree | 4 | 2019 | 4578 | 0.180 |
Why?
|
Biological Therapy | 1 | 2021 | 139 | 0.170 |
Why?
|
Haploinsufficiency | 2 | 2023 | 329 | 0.160 |
Why?
|
GTP-Binding Protein beta Subunits | 1 | 2018 | 33 | 0.160 |
Why?
|
Muscular Diseases | 1 | 2023 | 551 | 0.160 |
Why?
|
Spasms, Infantile | 1 | 2022 | 296 | 0.160 |
Why?
|
Guanosine Triphosphate | 1 | 2019 | 316 | 0.160 |
Why?
|
Retinitis Pigmentosa | 1 | 2022 | 397 | 0.160 |
Why?
|
Noonan Syndrome | 1 | 2019 | 120 | 0.160 |
Why?
|
Heredodegenerative Disorders, Nervous System | 1 | 2018 | 16 | 0.150 |
Why?
|
Genetic Association Studies | 3 | 2019 | 2716 | 0.150 |
Why?
|
Monomeric GTP-Binding Proteins | 1 | 2019 | 200 | 0.150 |
Why?
|
Asparagine | 1 | 2017 | 119 | 0.150 |
Why?
|
Cataract | 1 | 2023 | 827 | 0.140 |
Why?
|
Child Development Disorders, Pervasive | 2 | 2011 | 599 | 0.130 |
Why?
|
DNA Copy Number Variations | 4 | 2017 | 2013 | 0.130 |
Why?
|
Ribonuclease III | 1 | 2018 | 279 | 0.130 |
Why?
|
Consanguinity | 1 | 2017 | 456 | 0.130 |
Why?
|
Neoplastic Syndromes, Hereditary | 1 | 2018 | 243 | 0.130 |
Why?
|
Chromosomes, Human, Pair 14 | 2 | 2018 | 286 | 0.120 |
Why?
|
DEAD-box RNA Helicases | 1 | 2018 | 383 | 0.120 |
Why?
|
Glutamine | 1 | 2017 | 576 | 0.120 |
Why?
|
Facies | 2 | 2013 | 223 | 0.120 |
Why?
|
Child, Preschool | 11 | 2024 | 42056 | 0.120 |
Why?
|
Mitochondrial Diseases | 1 | 2018 | 340 | 0.110 |
Why?
|
Arginine | 1 | 2017 | 934 | 0.110 |
Why?
|
Siblings | 1 | 2017 | 824 | 0.110 |
Why?
|
Brain Diseases | 1 | 2022 | 1540 | 0.110 |
Why?
|
Infant | 9 | 2024 | 36053 | 0.110 |
Why?
|
Chromosome Disorders | 1 | 2016 | 499 | 0.110 |
Why?
|
Sequence Deletion | 2 | 2018 | 1493 | 0.110 |
Why?
|
Nutritional Status | 1 | 2021 | 1607 | 0.100 |
Why?
|
Recombinant Proteins | 2 | 2021 | 6538 | 0.100 |
Why?
|
DNA, Mitochondrial | 1 | 2018 | 858 | 0.100 |
Why?
|
Chromosomes, Human, Pair 19 | 1 | 2013 | 347 | 0.100 |
Why?
|
Peripheral Nervous System Diseases | 1 | 2018 | 708 | 0.100 |
Why?
|
Mitochondrial Proteins | 1 | 2018 | 979 | 0.100 |
Why?
|
Child | 15 | 2024 | 79799 | 0.100 |
Why?
|
Membrane Proteins | 2 | 2019 | 7850 | 0.100 |
Why?
|
Methylenetetrahydrofolate Dehydrogenase (NADP) | 1 | 2011 | 17 | 0.100 |
Why?
|
Cardiomyopathies | 1 | 2023 | 1951 | 0.090 |
Why?
|
Spherocytosis, Hereditary | 1 | 2011 | 84 | 0.090 |
Why?
|
Asperger Syndrome | 1 | 2010 | 56 | 0.090 |
Why?
|
Polymorphism, Single Nucleotide | 5 | 2017 | 15790 | 0.090 |
Why?
|
Arthrogryposis | 1 | 2011 | 68 | 0.090 |
Why?
|
Comparative Genomic Hybridization | 1 | 2012 | 473 | 0.090 |
Why?
|
Phenotype | 6 | 2024 | 16548 | 0.090 |
Why?
|
Proteasome Endopeptidase Complex | 1 | 2017 | 1313 | 0.090 |
Why?
|
Chromosomes, Human, Pair 7 | 1 | 2011 | 311 | 0.090 |
Why?
|
Chromosomes, Human, Pair 22 | 1 | 2011 | 346 | 0.090 |
Why?
|
Gene Duplication | 1 | 2011 | 314 | 0.090 |
Why?
|
Chromosomes, Human, Pair 15 | 1 | 2011 | 363 | 0.080 |
Why?
|
Epilepsy | 2 | 2022 | 3267 | 0.080 |
Why?
|
DNA Mutational Analysis | 1 | 2017 | 4108 | 0.080 |
Why?
|
Liver Diseases | 1 | 2018 | 1302 | 0.080 |
Why?
|
Escherichia coli | 1 | 2021 | 4219 | 0.080 |
Why?
|
Binding Sites | 1 | 2017 | 6048 | 0.080 |
Why?
|
Humans | 31 | 2024 | 760613 | 0.070 |
Why?
|
Models, Molecular | 1 | 2017 | 5434 | 0.070 |
Why?
|
Fibroblasts | 1 | 2017 | 4089 | 0.070 |
Why?
|
Adult | 10 | 2024 | 220007 | 0.070 |
Why?
|
Clinical Trials as Topic | 1 | 2022 | 8055 | 0.070 |
Why?
|
Nucleic Acid Hybridization | 1 | 2007 | 1304 | 0.070 |
Why?
|
Cognition | 1 | 2023 | 6964 | 0.060 |
Why?
|
Female | 16 | 2024 | 391246 | 0.060 |
Why?
|
Neonatal Screening | 1 | 2009 | 595 | 0.060 |
Why?
|
Male | 17 | 2024 | 359718 | 0.060 |
Why?
|
Diet | 1 | 2021 | 8010 | 0.050 |
Why?
|
Carrier Proteins | 1 | 2016 | 4938 | 0.050 |
Why?
|
Health Education | 1 | 2009 | 1049 | 0.050 |
Why?
|
Adolescent | 9 | 2024 | 87809 | 0.050 |
Why?
|
Autistic Disorder | 1 | 2011 | 1214 | 0.050 |
Why?
|
Herpes Simplex | 1 | 2024 | 478 | 0.050 |
Why?
|
Fatty Acids, Essential | 1 | 2021 | 97 | 0.050 |
Why?
|
Phosphotransferases (Alcohol Group Acceptor) | 1 | 2023 | 436 | 0.050 |
Why?
|
Amidohydrolases | 1 | 2021 | 162 | 0.050 |
Why?
|
Prognosis | 2 | 2017 | 29661 | 0.040 |
Why?
|
Drug Packaging | 2 | 1969 | 43 | 0.040 |
Why?
|
Micronutrients | 1 | 2021 | 381 | 0.040 |
Why?
|
Syndrome | 1 | 2024 | 3280 | 0.040 |
Why?
|
Atrophy | 1 | 2022 | 1626 | 0.040 |
Why?
|
Lysosomes | 1 | 2022 | 920 | 0.030 |
Why?
|
Young Adult | 6 | 2024 | 58748 | 0.030 |
Why?
|
Heart Defects, Congenital | 1 | 2013 | 4673 | 0.030 |
Why?
|
Adenosine Triphosphate | 1 | 2022 | 1993 | 0.030 |
Why?
|
Dietary Proteins | 1 | 2021 | 949 | 0.030 |
Why?
|
Genetic Engineering | 1 | 2021 | 933 | 0.030 |
Why?
|
Heterozygote | 1 | 2022 | 2798 | 0.030 |
Why?
|
Nervous System | 1 | 2018 | 543 | 0.030 |
Why?
|
Mutation, Missense | 1 | 2024 | 2567 | 0.030 |
Why?
|
Executive Function | 1 | 2023 | 1374 | 0.030 |
Why?
|
Chromosomes, Human, Pair 1 | 1 | 2016 | 635 | 0.030 |
Why?
|
Retrospective Studies | 1 | 2022 | 80345 | 0.030 |
Why?
|
RNA-Binding Proteins | 1 | 2022 | 1894 | 0.030 |
Why?
|
Genetic Predisposition to Disease | 2 | 2011 | 17790 | 0.030 |
Why?
|
Consensus | 1 | 2022 | 3113 | 0.030 |
Why?
|
GATA4 Transcription Factor | 1 | 2013 | 124 | 0.030 |
Why?
|
Cross-Sectional Studies | 2 | 2024 | 25941 | 0.020 |
Why?
|
Protein Structure, Tertiary | 1 | 2018 | 3800 | 0.020 |
Why?
|
Homeostasis | 1 | 2022 | 3306 | 0.020 |
Why?
|
Protein Conformation | 1 | 2019 | 3970 | 0.020 |
Why?
|
Chromosomes, Human, Pair 8 | 1 | 2013 | 452 | 0.020 |
Why?
|
Microsatellite Repeats | 1 | 2013 | 786 | 0.020 |
Why?
|
Microarray Analysis | 1 | 2013 | 747 | 0.020 |
Why?
|
Neuropsychological Tests | 1 | 2023 | 7022 | 0.020 |
Why?
|
Minor Histocompatibility Antigens | 1 | 2011 | 293 | 0.020 |
Why?
|
HEK293 Cells | 1 | 2019 | 4263 | 0.020 |
Why?
|
Germ-Line Mutation | 1 | 2018 | 1842 | 0.020 |
Why?
|
Down-Regulation | 1 | 2017 | 2913 | 0.020 |
Why?
|
Ubiquitins | 1 | 2011 | 370 | 0.020 |
Why?
|
Gene Deletion | 1 | 2017 | 2668 | 0.020 |
Why?
|
Diagnosis, Differential | 1 | 2024 | 12968 | 0.020 |
Why?
|
Ubiquitin Thiolesterase | 1 | 2011 | 454 | 0.020 |
Why?
|
Longitudinal Studies | 1 | 2024 | 14494 | 0.020 |
Why?
|
Puerto Rico | 1 | 2009 | 373 | 0.020 |
Why?
|
Chromosomes, Artificial, Bacterial | 1 | 2007 | 122 | 0.020 |
Why?
|
Cosmetics | 1 | 1968 | 102 | 0.020 |
Why?
|
Tubulin | 1 | 2011 | 692 | 0.020 |
Why?
|
Endopeptidases | 1 | 2011 | 772 | 0.020 |
Why?
|
Oligonucleotide Probes | 1 | 2007 | 418 | 0.020 |
Why?
|
In Situ Hybridization, Fluorescence | 1 | 2013 | 2505 | 0.020 |
Why?
|
Autoantigens | 1 | 2011 | 877 | 0.020 |
Why?
|
Dose-Response Relationship, Drug | 1 | 2018 | 10826 | 0.020 |
Why?
|
Mass Screening | 1 | 2022 | 5422 | 0.020 |
Why?
|
User-Computer Interface | 1 | 2013 | 1403 | 0.020 |
Why?
|
Zebrafish | 1 | 2017 | 2997 | 0.020 |
Why?
|
Neuropeptides | 1 | 2011 | 943 | 0.020 |
Why?
|
Genetic Linkage | 1 | 2010 | 2381 | 0.020 |
Why?
|
Infant, Newborn | 2 | 2019 | 26179 | 0.010 |
Why?
|
Mitochondria | 1 | 2018 | 3601 | 0.010 |
Why?
|
Gene Frequency | 1 | 2011 | 3613 | 0.010 |
Why?
|
Animals | 4 | 2024 | 167960 | 0.010 |
Why?
|
Transcription Factors | 1 | 2023 | 12102 | 0.010 |
Why?
|
Glycoproteins | 1 | 2011 | 2208 | 0.010 |
Why?
|
Middle Aged | 3 | 2024 | 220359 | 0.010 |
Why?
|
Needs Assessment | 1 | 2009 | 1139 | 0.010 |
Why?
|
Program Development | 1 | 2009 | 1297 | 0.010 |
Why?
|
Genome-Wide Association Study | 2 | 2013 | 12628 | 0.010 |
Why?
|
Cohort Studies | 2 | 2018 | 41337 | 0.010 |
Why?
|
Liver | 1 | 2018 | 7510 | 0.010 |
Why?
|
Family | 1 | 2011 | 3189 | 0.010 |
Why?
|
Attitude to Health | 1 | 2009 | 2029 | 0.010 |
Why?
|
Alleles | 1 | 2011 | 6900 | 0.010 |
Why?
|
Chromosome Mapping | 1 | 2007 | 4626 | 0.010 |
Why?
|
Oligonucleotide Array Sequence Analysis | 1 | 2007 | 3774 | 0.010 |
Why?
|
Disease Models, Animal | 1 | 2017 | 18137 | 0.010 |
Why?
|
Pregnancy | 1 | 2018 | 29746 | 0.010 |
Why?
|
Genotype | 1 | 2011 | 12957 | 0.010 |
Why?
|
Comorbidity | 1 | 2011 | 10553 | 0.010 |
Why?
|
Health Personnel | 1 | 2009 | 3310 | 0.010 |
Why?
|
Treatment Outcome | 1 | 2021 | 64981 | 0.010 |
Why?
|
Mice | 1 | 2016 | 81209 | 0.010 |
Why?
|
Drug Stability | 1 | 1968 | 290 | 0.000 |
Why?
|
Plastics | 1 | 1968 | 115 | 0.000 |
Why?
|
Rodentia | 1 | 1969 | 260 | 0.000 |
Why?
|
Fungi | 1 | 1969 | 339 | 0.000 |
Why?
|
Metals | 1 | 1968 | 736 | 0.000 |
Why?
|
Risk Factors | 1 | 2010 | 74333 | 0.000 |
Why?
|
Bacteria | 1 | 1969 | 2199 | 0.000 |
Why?
|