| Name |
Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Neonatal Screening | 19 | 2019 | 43 | 2.350 |
Why?
|
| Hypothyroidism | 3 | 2013 | 24 | 0.900 |
Why?
|
| Mass Spectrometry | 8 | 2003 | 284 | 0.780 |
Why?
|
| Metabolism, Inborn Errors | 8 | 2003 | 19 | 0.740 |
Why?
|
| Carnitine | 8 | 2003 | 17 | 0.720 |
Why?
|
| Thyrotropin | 3 | 2013 | 49 | 0.720 |
Why?
|
| Infant, Newborn | 38 | 2019 | 2455 | 0.710 |
Why?
|
| Thyroiditis, Autoimmune | 2 | 2013 | 15 | 0.700 |
Why?
|
| High-Throughput Nucleotide Sequencing | 2 | 2019 | 68 | 0.640 |
Why?
|
| Mutation | 8 | 2010 | 1213 | 0.640 |
Why?
|
| Polymerase Chain Reaction | 9 | 2012 | 492 | 0.640 |
Why?
|
| DNA | 8 | 2019 | 597 | 0.630 |
Why?
|
| Genetic Testing | 5 | 2015 | 159 | 0.580 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 7 | 2019 | 8 | 0.570 |
Why?
|
| Phenylketonurias | 6 | 2009 | 7 | 0.550 |
Why?
|
| Genotype | 7 | 2014 | 786 | 0.540 |
Why?
|
| Phenylalanine Hydroxylase | 3 | 2009 | 3 | 0.490 |
Why?
|
| Dried Blood Spot Testing | 1 | 2013 | 4 | 0.460 |
Why?
|
| Blood Specimen Collection | 6 | 2013 | 17 | 0.450 |
Why?
|
| Mass Screening | 9 | 2013 | 843 | 0.400 |
Why?
|
| Biopterin | 3 | 2009 | 10 | 0.390 |
Why?
|
| Acyl-CoA Dehydrogenases | 3 | 2001 | 6 | 0.330 |
Why?
|
| Paper | 6 | 2013 | 23 | 0.310 |
Why?
|
| Glucosephosphate Dehydrogenase Deficiency | 1 | 2005 | 10 | 0.260 |
Why?
|
| Immunoglobulins, Thyroid-Stimulating | 1 | 2004 | 2 | 0.250 |
Why?
|
| DNA Mutational Analysis | 4 | 2003 | 159 | 0.240 |
Why?
|
| Globins | 1 | 2004 | 13 | 0.240 |
Why?
|
| Galactosemias | 2 | 2003 | 2 | 0.240 |
Why?
|
| Reproducibility of Results | 6 | 2014 | 2077 | 0.240 |
Why?
|
| Sensitivity and Specificity | 6 | 2014 | 1753 | 0.230 |
Why?
|
| Amidohydrolases | 2 | 2003 | 60 | 0.230 |
Why?
|
| Hematologic Tests | 1 | 2003 | 24 | 0.230 |
Why?
|
| Fluorescence Resonance Energy Transfer | 1 | 2004 | 45 | 0.230 |
Why?
|
| Muscular Dystrophies | 4 | 2015 | 17 | 0.230 |
Why?
|
| Humans | 50 | 2019 | 68618 | 0.220 |
Why?
|
| Spinal Muscular Atrophies of Childhood | 2 | 2014 | 4 | 0.220 |
Why?
|
| UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 1 | 2003 | 1 | 0.220 |
Why?
|
| Genetics | 1 | 2002 | 6 | 0.210 |
Why?
|
| Sequence Analysis, DNA | 2 | 2019 | 208 | 0.190 |
Why?
|
| Base Sequence | 6 | 2005 | 1015 | 0.190 |
Why?
|
| Sudden Infant Death | 1 | 2001 | 6 | 0.190 |
Why?
|
| Isovaleryl-CoA Dehydrogenase | 1 | 2019 | 1 | 0.180 |
Why?
|
| DNA Primers | 4 | 2005 | 302 | 0.170 |
Why?
|
| Infant | 10 | 2010 | 2891 | 0.160 |
Why?
|
| Lipid Metabolism, Inborn Errors | 2 | 2010 | 6 | 0.150 |
Why?
|
| Child, Preschool | 8 | 2010 | 3187 | 0.150 |
Why?
|
| Spectrometry, Mass, Secondary Ion | 1 | 1997 | 2 | 0.140 |
Why?
|
| Smith-Lemli-Opitz Syndrome | 1 | 1997 | 6 | 0.140 |
Why?
|
| Phenylalanine | 3 | 2009 | 22 | 0.140 |
Why?
|
| Parents | 2 | 2014 | 312 | 0.140 |
Why?
|
| Maple Syrup Urine Disease | 2 | 1995 | 4 | 0.140 |
Why?
|
| Cystic Fibrosis | 4 | 1995 | 283 | 0.140 |
Why?
|
| Prospective Studies | 6 | 2013 | 3705 | 0.140 |
Why?
|
| Predictive Value of Tests | 2 | 2013 | 1465 | 0.130 |
Why?
|
| Adult | 14 | 2015 | 21403 | 0.130 |
Why?
|
| Female | 18 | 2019 | 38074 | 0.130 |
Why?
|
| Muscular Dystrophy, Duchenne | 1 | 2014 | 20 | 0.120 |
Why?
|
| Workflow | 1 | 2014 | 100 | 0.120 |
Why?
|
| Thyroid Function Tests | 1 | 2013 | 21 | 0.110 |
Why?
|
| Young Adult | 4 | 2015 | 5717 | 0.110 |
Why?
|
| Genetic Variation | 1 | 2014 | 220 | 0.110 |
Why?
|
| Trypsinogen | 3 | 1999 | 7 | 0.110 |
Why?
|
| Pregnancy Trimester, First | 1 | 2013 | 43 | 0.110 |
Why?
|
| Postpartum Period | 1 | 2013 | 67 | 0.110 |
Why?
|
| Prenatal Diagnosis | 1 | 2013 | 73 | 0.110 |
Why?
|
| Computational Biology | 1 | 2014 | 190 | 0.110 |
Why?
|
| Attitude to Health | 2 | 2014 | 403 | 0.110 |
Why?
|
| Acyl-CoA Dehydrogenase | 4 | 2010 | 8 | 0.110 |
Why?
|
| Male | 17 | 2019 | 37321 | 0.100 |
Why?
|
| Adolescent | 5 | 2015 | 8912 | 0.100 |
Why?
|
| Spectrometry, Mass, Electrospray Ionization | 2 | 2003 | 67 | 0.100 |
Why?
|
| Reference Values | 6 | 2003 | 579 | 0.100 |
Why?
|
| Molecular Sequence Data | 5 | 2003 | 1447 | 0.090 |
Why?
|
| Biotechnology | 1 | 1991 | 34 | 0.090 |
Why?
|
| Pregnancy Complications | 1 | 2013 | 286 | 0.090 |
Why?
|
| Death, Sudden | 1 | 2010 | 24 | 0.090 |
Why?
|
| Pedigree | 2 | 2009 | 159 | 0.090 |
Why?
|
| Cohort Studies | 4 | 2019 | 2358 | 0.090 |
Why?
|
| Alleles | 2 | 2009 | 386 | 0.090 |
Why?
|
| Gene Deletion | 4 | 2012 | 235 | 0.090 |
Why?
|
| Poland | 1 | 2009 | 10 | 0.080 |
Why?
|
| Gene Frequency | 1 | 2009 | 207 | 0.080 |
Why?
|
| Membrane Proteins | 1 | 1993 | 617 | 0.080 |
Why?
|
| Algorithms | 1 | 2014 | 1196 | 0.080 |
Why?
|
| Alcohol Oxidoreductases | 1 | 1988 | 31 | 0.080 |
Why?
|
| Transition Temperature | 2 | 2007 | 9 | 0.080 |
Why?
|
| Pregnancy | 1 | 2013 | 2334 | 0.070 |
Why?
|
| Child | 7 | 2009 | 6405 | 0.070 |
Why?
|
| Infant, Newborn, Diseases | 3 | 1985 | 91 | 0.070 |
Why?
|
| Biotinidase | 2 | 2003 | 2 | 0.070 |
Why?
|
| Leucine | 2 | 1998 | 41 | 0.070 |
Why?
|
| Pennsylvania | 3 | 1998 | 46 | 0.070 |
Why?
|
| Polymorphism, Single Nucleotide | 2 | 2007 | 627 | 0.070 |
Why?
|
| Amino Acids | 2 | 2003 | 131 | 0.060 |
Why?
|
| Middle Aged | 3 | 2013 | 21147 | 0.060 |
Why?
|
| Exons | 3 | 2012 | 122 | 0.060 |
Why?
|
| Mutation, Missense | 2 | 2008 | 112 | 0.060 |
Why?
|
| Clinical Enzyme Tests | 2 | 1984 | 6 | 0.060 |
Why?
|
| Iodide Peroxidase | 1 | 2004 | 2 | 0.060 |
Why?
|
| Thyroglobulin | 1 | 2004 | 17 | 0.060 |
Why?
|
| Creatine Kinase | 1 | 1984 | 46 | 0.060 |
Why?
|
| Homozygote | 3 | 2012 | 119 | 0.060 |
Why?
|
| Chemistry, Clinical | 1 | 2003 | 6 | 0.050 |
Why?
|
| Fibroblasts | 1 | 1988 | 902 | 0.050 |
Why?
|
| Nucleic Acid Hybridization | 1 | 2003 | 95 | 0.050 |
Why?
|
| Child Development | 1 | 2003 | 102 | 0.050 |
Why?
|
| Urea | 2 | 1982 | 51 | 0.050 |
Why?
|
| Molecular Diagnostic Techniques | 1 | 2003 | 47 | 0.050 |
Why?
|
| Short Bowel Syndrome | 2 | 1999 | 15 | 0.050 |
Why?
|
| Clinical Laboratory Techniques | 2 | 1999 | 60 | 0.050 |
Why?
|
| Evaluation Studies as Topic | 3 | 1999 | 219 | 0.050 |
Why?
|
| Bile | 1 | 2001 | 35 | 0.050 |
Why?
|
| Autopsy | 1 | 2001 | 56 | 0.050 |
Why?
|
| Regression Analysis | 1 | 2003 | 737 | 0.050 |
Why?
|
| Mucopolysaccharidoses | 1 | 1980 | 2 | 0.050 |
Why?
|
| Chondroitin | 1 | 1980 | 13 | 0.050 |
Why?
|
| Chondroitin Sulfates | 1 | 1980 | 44 | 0.040 |
Why?
|
| False Positive Reactions | 2 | 2003 | 95 | 0.040 |
Why?
|
| Canada | 1 | 2001 | 267 | 0.040 |
Why?
|
| Oxidation-Reduction | 2 | 2001 | 567 | 0.040 |
Why?
|
| Mexico | 1 | 2019 | 38 | 0.040 |
Why?
|
| Fatty Acids | 1 | 2001 | 222 | 0.040 |
Why?
|
| Fluorescence | 3 | 2008 | 104 | 0.040 |
Why?
|
| Intestinal Diseases | 1 | 1999 | 25 | 0.040 |
Why?
|
| Biomarkers | 3 | 2019 | 1593 | 0.040 |
Why?
|
| Delayed Diagnosis | 1 | 2019 | 39 | 0.040 |
Why?
|
| Heterozygote | 2 | 2001 | 174 | 0.040 |
Why?
|
| Tandem Mass Spectrometry | 1 | 2019 | 139 | 0.040 |
Why?
|
| Diagnosis, Computer-Assisted | 1 | 1999 | 75 | 0.040 |
Why?
|
| Intestines | 1 | 1999 | 114 | 0.040 |
Why?
|
| Forecasting | 1 | 1999 | 277 | 0.040 |
Why?
|
| Oligonucleotide Array Sequence Analysis | 1 | 1999 | 320 | 0.040 |
Why?
|
| Carbon-Carbon Ligases | 1 | 1998 | 1 | 0.040 |
Why?
|
| Radioisotope Dilution Technique | 1 | 1997 | 14 | 0.040 |
Why?
|
| Butanols | 1 | 1997 | 5 | 0.040 |
Why?
|
| Filtration | 2 | 1997 | 61 | 0.040 |
Why?
|
| United States | 2 | 2001 | 7367 | 0.040 |
Why?
|
| Hyperargininemia | 1 | 1977 | 1 | 0.040 |
Why?
|
| Pancreas | 1 | 1998 | 225 | 0.040 |
Why?
|
| Dehydrocholesterols | 1 | 1997 | 3 | 0.040 |
Why?
|
| Stress, Psychological | 1 | 2003 | 824 | 0.040 |
Why?
|
| Cystic Fibrosis Transmembrane Conductance Regulator | 2 | 1995 | 51 | 0.030 |
Why?
|
| Amino Acid Sequence | 2 | 1995 | 1083 | 0.030 |
Why?
|
| Enzyme Stability | 2 | 2001 | 30 | 0.030 |
Why?
|
| Cholesterol | 1 | 1997 | 331 | 0.030 |
Why?
|
| Aged, 80 and over | 1 | 2004 | 4848 | 0.030 |
Why?
|
| Protein Folding | 2 | 2008 | 82 | 0.030 |
Why?
|
| Isoleucine | 1 | 1995 | 7 | 0.030 |
Why?
|
| Mutagenesis, Site-Directed | 2 | 2008 | 204 | 0.030 |
Why?
|
| Valine | 1 | 1995 | 43 | 0.030 |
Why?
|
| Chromatography, High Pressure Liquid | 2 | 1988 | 381 | 0.030 |
Why?
|
| Early Diagnosis | 1 | 2014 | 122 | 0.030 |
Why?
|
| Hydro-Lyases | 1 | 1993 | 4 | 0.030 |
Why?
|
| Polymorphism, Restriction Fragment Length | 1 | 1993 | 44 | 0.030 |
Why?
|
| Escherichia coli | 2 | 2008 | 368 | 0.030 |
Why?
|
| Argininosuccinic Aciduria | 2 | 1982 | 2 | 0.030 |
Why?
|
| Emotions | 1 | 2014 | 244 | 0.030 |
Why?
|
| Survival of Motor Neuron 1 Protein | 1 | 2012 | 1 | 0.030 |
Why?
|
| Survival of Motor Neuron 2 Protein | 1 | 2012 | 2 | 0.030 |
Why?
|
| Health Surveys | 1 | 2014 | 489 | 0.030 |
Why?
|
| Gene Dosage | 1 | 2012 | 47 | 0.030 |
Why?
|
| Bacillus subtilis | 2 | 1982 | 49 | 0.020 |
Why?
|
| Blotting, Southern | 1 | 1991 | 67 | 0.020 |
Why?
|
| Anxiety | 1 | 2014 | 422 | 0.020 |
Why?
|
| Incidence | 1 | 1995 | 1603 | 0.020 |
Why?
|
| Spectrophotometry | 2 | 1988 | 54 | 0.020 |
Why?
|
| Spectrometry, Fluorescence | 2 | 1988 | 112 | 0.020 |
Why?
|
| DNA-Binding Proteins | 1 | 1993 | 700 | 0.020 |
Why?
|
| Time Factors | 1 | 1997 | 4655 | 0.020 |
Why?
|
| Organisms, Genetically Modified | 1 | 2008 | 2 | 0.020 |
Why?
|
| Aged | 1 | 2004 | 14862 | 0.020 |
Why?
|
| Follow-Up Studies | 1 | 2015 | 3259 | 0.020 |
Why?
|
| Mutant Proteins | 1 | 2008 | 45 | 0.020 |
Why?
|
| Chorionic Villi | 1 | 1988 | 5 | 0.020 |
Why?
|
| Circular Dichroism | 1 | 2008 | 99 | 0.020 |
Why?
|
| Glutathione | 2 | 1981 | 343 | 0.020 |
Why?
|
| Amnion | 1 | 1988 | 15 | 0.020 |
Why?
|
| Protein Stability | 1 | 2008 | 90 | 0.020 |
Why?
|
| Erythrocytes | 1 | 1988 | 137 | 0.020 |
Why?
|
| Serotonin | 1 | 1988 | 144 | 0.020 |
Why?
|
| Enzyme-Linked Immunosorbent Assay | 2 | 1999 | 507 | 0.020 |
Why?
|
| Leukocytes, Mononuclear | 1 | 1988 | 124 | 0.020 |
Why?
|
| Nucleic Acid Denaturation | 1 | 2007 | 16 | 0.020 |
Why?
|
| Kinetics | 1 | 2008 | 1047 | 0.020 |
Why?
|
| Pancreatitis | 2 | 1999 | 279 | 0.020 |
Why?
|
| Surveys and Questionnaires | 1 | 2014 | 2800 | 0.020 |
Why?
|
| Protein Binding | 1 | 2008 | 1027 | 0.020 |
Why?
|
| Risk | 2 | 1984 | 563 | 0.020 |
Why?
|
| Homocystinuria | 1 | 1985 | 2 | 0.020 |
Why?
|
| Hemoglobinopathies | 1 | 1985 | 5 | 0.020 |
Why?
|
| Congenital Hypothyroidism | 1 | 1985 | 6 | 0.020 |
Why?
|
| Adrenal Hyperplasia, Congenital | 1 | 1985 | 23 | 0.020 |
Why?
|
| Skin | 1 | 1988 | 451 | 0.020 |
Why?
|
| Biological Assay | 2 | 1982 | 88 | 0.020 |
Why?
|
| Lyases | 1 | 1982 | 4 | 0.010 |
Why?
|
| Citric Acid Cycle | 1 | 1982 | 15 | 0.010 |
Why?
|
| Developmental Disabilities | 1 | 2003 | 119 | 0.010 |
Why?
|
| Fetal Blood | 1 | 2003 | 131 | 0.010 |
Why?
|
| Intellectual Disability | 1 | 2003 | 114 | 0.010 |
Why?
|
| Chromatography, Paper | 1 | 1982 | 4 | 0.010 |
Why?
|
| Chromatography, Thin Layer | 1 | 1982 | 52 | 0.010 |
Why?
|
| alpha 1-Antitrypsin | 1 | 1982 | 61 | 0.010 |
Why?
|
| Chaperonin 10 | 1 | 2001 | 1 | 0.010 |
Why?
|
| Chaperonin 60 | 1 | 2001 | 10 | 0.010 |
Why?
|
| Homeostasis | 1 | 2003 | 291 | 0.010 |
Why?
|
| Reagent Strips | 1 | 1981 | 2 | 0.010 |
Why?
|
| Indicators and Reagents | 1 | 1981 | 63 | 0.010 |
Why?
|
| Haplotypes | 1 | 2001 | 174 | 0.010 |
Why?
|
| Health Status | 1 | 2003 | 429 | 0.010 |
Why?
|
| Arginase | 1 | 1980 | 15 | 0.010 |
Why?
|
| Chondroitinases and Chondroitin Lyases | 1 | 1980 | 6 | 0.010 |
Why?
|
| Isomerism | 1 | 1980 | 63 | 0.010 |
Why?
|
| Glycosaminoglycans | 1 | 1980 | 88 | 0.010 |
Why?
|
| Heme | 1 | 1999 | 17 | 0.010 |
Why?
|
| Multivariate Analysis | 1 | 2003 | 1046 | 0.010 |
Why?
|
| Intestinal Pseudo-Obstruction | 1 | 1999 | 7 | 0.010 |
Why?
|
| Parenteral Nutrition, Total | 1 | 1999 | 22 | 0.010 |
Why?
|
| Blood Chemical Analysis | 1 | 1999 | 43 | 0.010 |
Why?
|
| Temperature | 1 | 2001 | 341 | 0.010 |
Why?
|
| Recombinant Proteins | 1 | 2001 | 742 | 0.010 |
Why?
|
| Transplantation, Homologous | 1 | 1999 | 242 | 0.010 |
Why?
|
| Arginine | 2 | 1993 | 102 | 0.010 |
Why?
|
| Nucleoside Deaminases | 1 | 1978 | 3 | 0.010 |
Why?
|
| Adenosine Deaminase | 1 | 1978 | 6 | 0.010 |
Why?
|
| Reagent Kits, Diagnostic | 1 | 1998 | 54 | 0.010 |
Why?
|
| Spectrometry, Mass, Fast Atom Bombardment | 1 | 1998 | 7 | 0.010 |
Why?
|
| Christianity | 1 | 1998 | 16 | 0.010 |
Why?
|
| Hospitalization | 1 | 2003 | 978 | 0.010 |
Why?
|
| Phenotype | 2 | 1995 | 947 | 0.010 |
Why?
|
| Macaca fascicularis | 1 | 1977 | 31 | 0.010 |
Why?
|
| Acute Disease | 1 | 1998 | 658 | 0.010 |
Why?
|
| Mothers | 1 | 1998 | 172 | 0.010 |
Why?
|
| DNA Probes | 1 | 1995 | 57 | 0.010 |
Why?
|
| Electrophoresis, Polyacrylamide Gel | 1 | 1995 | 272 | 0.010 |
Why?
|
| Genetic Counseling | 1 | 1995 | 45 | 0.010 |
Why?
|
| Models, Genetic | 1 | 1995 | 161 | 0.010 |
Why?
|
| Patient Selection | 1 | 1998 | 592 | 0.010 |
Why?
|
| Hepatocyte Nuclear Factor 1-beta | 1 | 1993 | 3 | 0.010 |
Why?
|
| Hepatocyte Nuclear Factor 1 | 1 | 1993 | 4 | 0.010 |
Why?
|
| Hepatocyte Nuclear Factor 1-alpha | 1 | 1993 | 5 | 0.010 |
Why?
|
| Point Mutation | 1 | 1993 | 97 | 0.010 |
Why?
|
| Cysteine | 1 | 1993 | 112 | 0.010 |
Why?
|
| Gene Expression Regulation, Enzymologic | 1 | 1993 | 282 | 0.010 |
Why?
|
| Nuclear Proteins | 1 | 1993 | 271 | 0.010 |
Why?
|
| Drug Stability | 2 | 1980 | 71 | 0.010 |
Why?
|
| Methods | 2 | 1982 | 156 | 0.010 |
Why?
|
| Risk Factors | 1 | 1999 | 5731 | 0.010 |
Why?
|
| Microchemistry | 2 | 1980 | 19 | 0.010 |
Why?
|
| Transcription Factors | 1 | 1993 | 753 | 0.010 |
Why?
|
| Retrospective Studies | 1 | 1998 | 7277 | 0.000 |
Why?
|
| Citrulline | 1 | 1982 | 9 | 0.000 |
Why?
|
| Ornithine | 1 | 1982 | 9 | 0.000 |
Why?
|
| Homocystine | 1 | 1982 | 1 | 0.000 |
Why?
|
| Uracil | 1 | 1982 | 18 | 0.000 |
Why?
|
| Specimen Handling | 1 | 1982 | 47 | 0.000 |
Why?
|
| alpha 1-Antitrypsin Deficiency | 1 | 1982 | 37 | 0.000 |
Why?
|
| Lysine | 1 | 1982 | 96 | 0.000 |
Why?
|
| Dithionitrobenzoic Acid | 1 | 1981 | 3 | 0.000 |
Why?
|
| Pulmonary Emphysema | 1 | 1982 | 71 | 0.000 |
Why?
|
| Hematologic Diseases | 1 | 1980 | 20 | 0.000 |
Why?
|
| Pyrrolidonecarboxylic Acid | 1 | 1980 | 3 | 0.000 |
Why?
|
| Anemia, Hemolytic | 1 | 1980 | 37 | 0.000 |
Why?
|
| Liver Diseases | 1 | 1982 | 193 | 0.000 |
Why?
|
| Animals | 1 | 1977 | 20881 | 0.000 |
Why?
|
| Hemoglobinometry | 1 | 1978 | 5 | 0.000 |
Why?
|
| Xanthine Oxidase | 1 | 1978 | 15 | 0.000 |
Why?
|
| Smoking | 1 | 1982 | 1452 | 0.000 |
Why?
|