Name | Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Phenylketonurias | 5 | 2022 | 119 | 1.590 |
Why?
|
Phenylalanine Ammonia-Lyase | 4 | 2022 | 11 | 1.390 |
Why?
|
Abnormalities, Multiple | 5 | 2017 | 1380 | 0.810 |
Why?
|
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor | 1 | 2017 | 11 | 0.680 |
Why?
|
Aspartate-Ammonia Ligase | 1 | 2017 | 16 | 0.680 |
Why?
|
Lipid Metabolism, Inborn Errors | 1 | 2017 | 120 | 0.620 |
Why?
|
Chromosome Deletion | 5 | 2018 | 1373 | 0.610 |
Why?
|
Oxidoreductases Acting on CH-CH Group Donors | 1 | 2017 | 138 | 0.610 |
Why?
|
Amino Acid Metabolism, Inborn Errors | 1 | 2017 | 238 | 0.560 |
Why?
|
Developmental Disabilities | 3 | 2017 | 1382 | 0.500 |
Why?
|
Tooth Abnormalities | 1 | 2012 | 49 | 0.440 |
Why?
|
Bone Diseases, Developmental | 1 | 2012 | 130 | 0.410 |
Why?
|
Chromosomes, Human, Pair 16 | 1 | 2012 | 340 | 0.390 |
Why?
|
Seizures | 1 | 2017 | 2580 | 0.270 |
Why?
|
Nerve Tissue Proteins | 1 | 2017 | 4561 | 0.250 |
Why?
|
Homozygote | 2 | 2017 | 1856 | 0.230 |
Why?
|
Mutation | 5 | 2018 | 29290 | 0.210 |
Why?
|
Vacuolar Proton-Translocating ATPases | 1 | 2022 | 192 | 0.200 |
Why?
|
Phenylalanine | 2 | 2021 | 368 | 0.200 |
Why?
|
Repressor Proteins | 1 | 2012 | 3063 | 0.190 |
Why?
|
Pedigree | 4 | 2019 | 4710 | 0.190 |
Why?
|
Biological Therapy | 1 | 2021 | 144 | 0.190 |
Why?
|
Retinitis Pigmentosa | 1 | 2022 | 367 | 0.180 |
Why?
|
Spasms, Infantile | 1 | 2022 | 284 | 0.180 |
Why?
|
GTP-Binding Protein beta Subunits | 1 | 2018 | 32 | 0.180 |
Why?
|
Guanosine Triphosphate | 1 | 2019 | 328 | 0.170 |
Why?
|
Noonan Syndrome | 1 | 2019 | 132 | 0.170 |
Why?
|
Heredodegenerative Disorders, Nervous System | 1 | 2018 | 17 | 0.170 |
Why?
|
Asparagine | 1 | 2017 | 129 | 0.160 |
Why?
|
Monomeric GTP-Binding Proteins | 1 | 2019 | 202 | 0.160 |
Why?
|
Genetic Association Studies | 3 | 2019 | 2720 | 0.160 |
Why?
|
DNA Copy Number Variations | 4 | 2017 | 1894 | 0.150 |
Why?
|
Child Development Disorders, Pervasive | 2 | 2011 | 604 | 0.140 |
Why?
|
Ribonuclease III | 1 | 2018 | 275 | 0.140 |
Why?
|
Consanguinity | 1 | 2017 | 474 | 0.140 |
Why?
|
Neoplastic Syndromes, Hereditary | 1 | 2018 | 225 | 0.140 |
Why?
|
Chromosomes, Human, Pair 14 | 2 | 2018 | 308 | 0.140 |
Why?
|
DEAD-box RNA Helicases | 1 | 2018 | 357 | 0.130 |
Why?
|
Glutamine | 1 | 2017 | 556 | 0.130 |
Why?
|
Facies | 2 | 2013 | 193 | 0.130 |
Why?
|
Mitochondrial Diseases | 1 | 2018 | 314 | 0.130 |
Why?
|
Haploinsufficiency | 1 | 2016 | 310 | 0.130 |
Why?
|
Arginine | 1 | 2017 | 953 | 0.120 |
Why?
|
Siblings | 1 | 2017 | 820 | 0.120 |
Why?
|
Chromosome Disorders | 1 | 2016 | 496 | 0.120 |
Why?
|
Brain Diseases | 1 | 2022 | 1534 | 0.120 |
Why?
|
Nutritional Status | 1 | 2021 | 1544 | 0.120 |
Why?
|
DNA, Mitochondrial | 1 | 2018 | 794 | 0.110 |
Why?
|
Sequence Deletion | 2 | 2018 | 1550 | 0.110 |
Why?
|
Recombinant Proteins | 2 | 2021 | 6803 | 0.110 |
Why?
|
Peripheral Nervous System Diseases | 1 | 2018 | 703 | 0.110 |
Why?
|
Chromosomes, Human, Pair 19 | 1 | 2013 | 375 | 0.110 |
Why?
|
Methylenetetrahydrofolate Dehydrogenase (NADP) | 1 | 2011 | 16 | 0.110 |
Why?
|
Mitochondrial Proteins | 1 | 2018 | 985 | 0.100 |
Why?
|
Spherocytosis, Hereditary | 1 | 2011 | 79 | 0.100 |
Why?
|
Membrane Proteins | 2 | 2019 | 8047 | 0.100 |
Why?
|
Child, Preschool | 9 | 2018 | 41198 | 0.100 |
Why?
|
Asperger Syndrome | 1 | 2010 | 61 | 0.100 |
Why?
|
Proteasome Endopeptidase Complex | 1 | 2017 | 1312 | 0.100 |
Why?
|
Arthrogryposis | 1 | 2011 | 74 | 0.100 |
Why?
|
Comparative Genomic Hybridization | 1 | 2012 | 515 | 0.100 |
Why?
|
Polymorphism, Single Nucleotide | 5 | 2017 | 15603 | 0.100 |
Why?
|
Epilepsy | 2 | 2022 | 2922 | 0.100 |
Why?
|
Chromosomes, Human, Pair 22 | 1 | 2011 | 348 | 0.100 |
Why?
|
Chromosomes, Human, Pair 7 | 1 | 2011 | 331 | 0.100 |
Why?
|
Gene Duplication | 1 | 2011 | 334 | 0.090 |
Why?
|
Chromosomes, Human, Pair 15 | 1 | 2011 | 375 | 0.090 |
Why?
|
Liver Diseases | 1 | 2018 | 1243 | 0.090 |
Why?
|
Child | 13 | 2022 | 74468 | 0.090 |
Why?
|
Escherichia coli | 1 | 2021 | 4277 | 0.090 |
Why?
|
Binding Sites | 1 | 2017 | 6213 | 0.090 |
Why?
|
DNA Mutational Analysis | 1 | 2017 | 4296 | 0.090 |
Why?
|
Phenotype | 5 | 2022 | 16311 | 0.080 |
Why?
|
Infant | 6 | 2022 | 34569 | 0.080 |
Why?
|
Models, Molecular | 1 | 2017 | 5467 | 0.080 |
Why?
|
Fibroblasts | 1 | 2017 | 4228 | 0.080 |
Why?
|
Clinical Trials as Topic | 1 | 2022 | 7960 | 0.070 |
Why?
|
Nucleic Acid Hybridization | 1 | 2007 | 1435 | 0.070 |
Why?
|
Humans | 25 | 2022 | 715818 | 0.070 |
Why?
|
Adult | 8 | 2022 | 212279 | 0.070 |
Why?
|
Neonatal Screening | 1 | 2009 | 559 | 0.060 |
Why?
|
Diet | 1 | 2021 | 7565 | 0.060 |
Why?
|
Autistic Disorder | 1 | 2011 | 1068 | 0.060 |
Why?
|
Carrier Proteins | 1 | 2016 | 5101 | 0.060 |
Why?
|
Health Education | 1 | 2009 | 1063 | 0.050 |
Why?
|
Male | 15 | 2021 | 350352 | 0.050 |
Why?
|
Female | 13 | 2021 | 377229 | 0.050 |
Why?
|
Fatty Acids, Essential | 1 | 2021 | 94 | 0.050 |
Why?
|
Amidohydrolases | 1 | 2021 | 179 | 0.050 |
Why?
|
Prognosis | 2 | 2017 | 29007 | 0.050 |
Why?
|
Drug Packaging | 2 | 1969 | 43 | 0.050 |
Why?
|
Micronutrients | 1 | 2021 | 364 | 0.040 |
Why?
|
Atrophy | 1 | 2022 | 1499 | 0.040 |
Why?
|
Lysosomes | 1 | 2022 | 894 | 0.040 |
Why?
|
Heart Defects, Congenital | 1 | 2013 | 4273 | 0.040 |
Why?
|
Adolescent | 7 | 2022 | 85157 | 0.040 |
Why?
|
Adenosine Triphosphate | 1 | 2022 | 2023 | 0.040 |
Why?
|
Dietary Proteins | 1 | 2021 | 958 | 0.040 |
Why?
|
Heterozygote | 1 | 2022 | 2794 | 0.030 |
Why?
|
Genetic Engineering | 1 | 2021 | 944 | 0.030 |
Why?
|
Nervous System | 1 | 2018 | 565 | 0.030 |
Why?
|
Retrospective Studies | 1 | 2022 | 72473 | 0.030 |
Why?
|
Chromosomes, Human, Pair 1 | 1 | 2016 | 678 | 0.030 |
Why?
|
Consensus | 1 | 2022 | 2744 | 0.030 |
Why?
|
Microcephaly | 1 | 2017 | 396 | 0.030 |
Why?
|
RNA-Binding Proteins | 1 | 2022 | 1888 | 0.030 |
Why?
|
Young Adult | 5 | 2022 | 56228 | 0.030 |
Why?
|
Genetic Predisposition to Disease | 2 | 2011 | 17409 | 0.030 |
Why?
|
GATA4 Transcription Factor | 1 | 2013 | 136 | 0.030 |
Why?
|
Homeostasis | 1 | 2022 | 3332 | 0.030 |
Why?
|
Chromosomes, Human, Pair 8 | 1 | 2013 | 464 | 0.030 |
Why?
|
Protein Conformation | 1 | 2019 | 4041 | 0.030 |
Why?
|
Protein Structure, Tertiary | 1 | 2018 | 3964 | 0.030 |
Why?
|
Microsatellite Repeats | 1 | 2013 | 799 | 0.020 |
Why?
|
Microarray Analysis | 1 | 2013 | 778 | 0.020 |
Why?
|
Germ-Line Mutation | 1 | 2018 | 1727 | 0.020 |
Why?
|
Minor Histocompatibility Antigens | 1 | 2011 | 313 | 0.020 |
Why?
|
HEK293 Cells | 1 | 2019 | 4266 | 0.020 |
Why?
|
Ubiquitins | 1 | 2011 | 370 | 0.020 |
Why?
|
Down-Regulation | 1 | 2017 | 3066 | 0.020 |
Why?
|
Gene Deletion | 1 | 2017 | 2824 | 0.020 |
Why?
|
Ubiquitin Thiolesterase | 1 | 2011 | 435 | 0.020 |
Why?
|
Puerto Rico | 1 | 2009 | 354 | 0.020 |
Why?
|
Cosmetics | 1 | 1968 | 86 | 0.020 |
Why?
|
Chromosomes, Artificial, Bacterial | 1 | 2007 | 130 | 0.020 |
Why?
|
Endopeptidases | 1 | 2011 | 779 | 0.020 |
Why?
|
Oligonucleotide Probes | 1 | 2007 | 428 | 0.020 |
Why?
|
Tubulin | 1 | 2011 | 759 | 0.020 |
Why?
|
In Situ Hybridization, Fluorescence | 1 | 2013 | 2648 | 0.020 |
Why?
|
Autoantigens | 1 | 2011 | 903 | 0.020 |
Why?
|
Mass Screening | 1 | 2022 | 5208 | 0.020 |
Why?
|
User-Computer Interface | 1 | 2013 | 1439 | 0.020 |
Why?
|
Dose-Response Relationship, Drug | 1 | 2018 | 11201 | 0.020 |
Why?
|
Zebrafish | 1 | 2017 | 3003 | 0.020 |
Why?
|
Neuropeptides | 1 | 2011 | 937 | 0.020 |
Why?
|
Infant, Newborn | 2 | 2019 | 24796 | 0.020 |
Why?
|
Genetic Linkage | 1 | 2010 | 2508 | 0.020 |
Why?
|
Mitochondria | 1 | 2018 | 3613 | 0.020 |
Why?
|
Gene Frequency | 1 | 2011 | 3722 | 0.020 |
Why?
|
Genome-Wide Association Study | 2 | 2013 | 11940 | 0.010 |
Why?
|
Glycoproteins | 1 | 2011 | 2306 | 0.010 |
Why?
|
Needs Assessment | 1 | 2009 | 1146 | 0.010 |
Why?
|
Cohort Studies | 2 | 2018 | 40032 | 0.010 |
Why?
|
Program Development | 1 | 2009 | 1330 | 0.010 |
Why?
|
Liver | 1 | 2018 | 7594 | 0.010 |
Why?
|
Cross-Sectional Studies | 1 | 2021 | 23437 | 0.010 |
Why?
|
Family | 1 | 2011 | 3097 | 0.010 |
Why?
|
Attitude to Health | 1 | 2009 | 2110 | 0.010 |
Why?
|
Alleles | 1 | 2011 | 7099 | 0.010 |
Why?
|
Chromosome Mapping | 1 | 2007 | 4823 | 0.010 |
Why?
|
Oligonucleotide Array Sequence Analysis | 1 | 2007 | 4040 | 0.010 |
Why?
|
Disease Models, Animal | 1 | 2017 | 18197 | 0.010 |
Why?
|
Pregnancy | 1 | 2018 | 27398 | 0.010 |
Why?
|
Comorbidity | 1 | 2011 | 10435 | 0.010 |
Why?
|
Genotype | 1 | 2011 | 12919 | 0.010 |
Why?
|
Middle Aged | 2 | 2021 | 214666 | 0.010 |
Why?
|
Health Personnel | 1 | 2009 | 3045 | 0.010 |
Why?
|
Animals | 3 | 2017 | 169404 | 0.010 |
Why?
|
Treatment Outcome | 1 | 2021 | 62040 | 0.010 |
Why?
|
Mice | 1 | 2016 | 80373 | 0.010 |
Why?
|
Drug Stability | 1 | 1968 | 304 | 0.010 |
Why?
|
Plastics | 1 | 1968 | 120 | 0.010 |
Why?
|
Rodentia | 1 | 1969 | 235 | 0.010 |
Why?
|
Fungi | 1 | 1969 | 329 | 0.000 |
Why?
|
Metals | 1 | 1968 | 681 | 0.000 |
Why?
|
Risk Factors | 1 | 2010 | 70879 | 0.000 |
Why?
|
Bacteria | 1 | 1969 | 2114 | 0.000 |
Why?
|