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2001, ISBN 9788873014386, 203
Book
Analytical Chemistry, ISSN 0003-2700, 10/2018, Volume 90, Issue 20, p. 12168
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots... 
Enzymes | Neonates | Spectroscopy | Thioesterase | Enzyme activity | Cellobiase | Mass spectroscopy | Glucosidase | Medical screening | Assaying | Blood | Proteins | Newborn babies | Enzymatic activity | Neuronal ceroid lipofuscinosis | Mass spectrometry | Recombinant | Palmitoyl-(protein) hydrolase
Journal Article
01/2018, ISBN 9780438174658
Newborn screening has been an important public health tool for over fifty years. As technology improves, new testing has developed for rare diseases including... 
Medicine | Obstetrics | Biochemistry
Dissertation
Analytical Chemistry, ISSN 0003-2700, 10/2018, Volume 90, Issue 20, pp. 12168 - 12171
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots... 
CHEMISTRY, ANALYTICAL | NEURONAL CEROID-LIPOFUSCINOSES | PALMITOYL-PROTEIN THIOESTERASE | TRIPEPTIDYL PEPTIDASE
Journal Article
by Shungin, Dmitry and Winkler, Thomas W and Croteau-Chonka, Damien C and Ferreira, Teresa and Locke, Adam E and Mägi, Reedik and Strawbridge, Rona J and Pers, Tune H and Fischer, Krista and Justice, Anne E and Workalemahu, Tsegaselassie and Wu, Joseph M. W and Buchkovich, Martin L and Heard-Costa, Nancy L and Roman, Tamara S and ng, Alexander W and Song, Ci and Gustafsson, Stefan and Day, Felix R and Esko, Tonu and Fall, Tove and Kutalik, Zoltán and Luan, Jian'an and Randall, Joshua C and Scherag, Ané and Vedantam, Sailaja and Wood, Anew R and Chen, Jin and Fehrmann, Rudolf and Karjalainen, Juha and Kahali, Bratati and Liu, Ching-Ti and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Ehret, Georg B and Feitosa, Mary F and Goel, Anuj and Jackson, Anne U and Johnson, Toby and Kleber, Marcus E and Kristiansson, Kati and Mangino, Massimo and Mateo Leach, Irene and Medina-Gomez, Carolina and Palmer, Cameron D and Pasko, Dorota and Pechlivanis, Sonali and Peters, Marjolein J and Prokopenko, Inga and Stančáková, Alena and Ju Sung, Yun and Tanaka, Toshiko and Teumer, Alexander and van Vliet-Ostaptchouk, Jana V and Yengo, Loïc and Zhang, Weihua and Albrecht, Eva and Ärnlöv, Johan and Arscott, Gillian M and Bandinelli, Stefania and Barrett, Amy and Bellis, Claire and Bennett, Amanda J and Berne, Christian and Blüher, Matthias and Böhringer, Stefan and Bonnet, Fabrice and Böttcher, Yvonne and Bruinenberg, Marcel and Carba, Delia B and Caspersen, Ida H and Clarke, Robert and Daw, E. Warwick and Deelen, Joris and Deelman, Ewa and Delgado, Graciela and Doney, Alex S. F and Eklund, Niina and Erdos, Michael R and Estrada, Karol and Eury, Elodie and Frieich, Nele and Garcia, Melissa E and Gieaitis, Vilmantas and Gigante, Bruna and Go, Alan S and Golay, Alain and Grallert, Harald and Grammer, Tanja B and Gräßler, Jürgen and Grewal, Jagvir and Groves, Christopher J and Haller, Toomas and Hallmans, Goran and ... and PAGE Consortium and LifeLines Cohort Study and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and ADIPOGEN Consortium and CKDGen Consortium and GEFOS Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and GLGC and ADIPOGen Consortium and International Endogene Consortium and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GENIE Consortium and The GLGC and The GEFOS Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Högskolan Dalarna and Akademin Utbildning, hälsa och samhälle and Medicinsk vetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 187 - U378
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our... 
HUMAN HEIGHT | ABDOMINAL ADIPOSITY | MULTIDISCIPLINARY SCIENCES | COMMON SNPS | SUSCEPTIBILITY LOCI | GLYCEMIC TRAITS | FALSE DISCOVERY | MESENCHYMAL STEM-CELLS | GENOME-WIDE ASSOCIATION | ADIPOGENIC DIFFERENTIATION | SEXUAL-DIMORPHISM | Body Mass Index | Genome-Wide Association Study | Age Factors | Neovascularization, Physiologic - genetics | Epigenesis, Genetic | Humans | Male | Continental Population Groups - genetics | Sex Characteristics | Obesity - genetics | Europe - ethnology | Genome, Human - genetics | Adipose Tissue - metabolism | Insulin - metabolism | Models, Biological | Adipocytes - metabolism | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Body Fat Distribution | Transcription, Genetic - genetics | Adipogenesis - genetics | Waist-Hip Ratio | Quantitative Trait Loci - genetics | Adipose tissues | Quantitative trait loci | Genetic research | Genetic aspects | Research | Metabolism | Health aspects | Studies | Body mass index | Genealogy | Body fat | Insulin resistance | Genetics | Genomes | Abdomen | Meta-analysis | Life Sciences | Adipocytes/metabolism Adipogenesis/genetics Adipose Tissue/metabolism Age Factors Body Fat Distribution Body Mass Index Continental Population Groups/genetics Epigenesis, Genetic Europe/ethnology Female Genome, Human/genetics Genome-Wide Association Study Humans Insulin/metabolism Insulin Resistance/genetics Male Models, Biological Neovascularization, Physiologic/genetics Obesity/genetics Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics Sex Characteristics Transcription, Genetic/genetics Waist-Hip Ratio | Clinical Medicine | Hälsa och välfärd | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Health and Welfare
Journal Article
2011, 1st ed., ISBN 0679456724, cm.
Book
1981, 1st Ballantine Books ed., ISBN 9780345298065, 909 p., [28] p. of plates
Book
Nuclear Fusion, ISSN 0029-5515, 08/2018, Volume 58, Issue 10, p. 106032
This paper presents the first application to real JET data of the new equilibrium code NICE which enables the consistent resolution of the inverse equilibrium... 
JET | polarimetry | Stokes model | equilibrium reconstruction | PLASMA | MAGNETIC ANALYSIS | PHYSICS, FLUIDS & PLASMAS | CURRENT-DENSITY PROFILE | PARAMETERS | IDENTIFICATION | LI | TOKAMAK EQUILIBRIUM | Modeling and Simulation | Computer Science
Journal Article