المؤلفون: Murat Karaoglan, Gulper Nacarkahya, Emel Hatun Aytac, Mehmet Keskin

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Biotinidase deficiency, Genotype-biochemical phenotype discordance, Biotinidase activity, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/a2cef31b7d41471fb8b39004932c796b

المؤلفون: Jay S. Hanas, James R. S. Hocker, Christian A. Vannarath, Megan R. Lerner, Scott G. Blair, Stan A. Lightfoot, Rushie J. Hanas, James R. Couch, Linda A. Hershey

المصدر: Brain Sciences, Vol 11, Iss 583, p 583 (2021)

مصطلحات موضوعية: Alzheimer’s disease (AD), biochemical phenotype analysis, serum profiling, mass spectrometry, VWF/ADAMTS13 axis, traumatic brain injury (TBI), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Relation: https://www.mdpi.com/2076-3425/11/5/583; https://doaj.org/toc/2076-3425; https://doaj.org/article/cf15017443b5450a9d5cfb7b2f70ca97

الاتاحة: https://doi.org/10.3390/brainsci11050583
https://doaj.org/article/cf15017443b5450a9d5cfb7b2f70ca97

المؤلفون: N.O. Pichkur, N.V. Olkhovych, T.P. Ivanova, N.V. Samonenko

المصدر: Zdorovʹe Rebenka, Vol 12, Iss 7, Pp 788-796 (2017)

مصطلحات موضوعية: Pompe disease, infantile form, hypertrophic cardiomyopathy, myopathy, biochemical phenotype, enzymatic diagnosis, dried blood spot method, enzyme replacement ­therapy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://childshealth.zaslavsky.com.ua/article/view/116184; https://doaj.org/toc/2224-0551; https://doaj.org/toc/2307-1168

URL الوصول: https://doaj.org/article/f86710f9524f4acaabcdba02709f96c1

المؤلفون: Weiss, K.J., Berger, U., Haider, M., Wagner, M., Märtner, E.M.C., Regenauer-Vandewiele, S., Lotz-Havla, A., Schuhmann, E., Röschinger, W., Maier, E.M.

المصدر: Clin. Genet. 103, 644-654 (2023)

مصطلحات موضوعية: Acylcarnitines, Biochemical Phenotype, Medium-chain Acyl-coa Dehydrogenase Deficiency, Newborn Screening, Secondary Carnitine Deficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/36840705; info:eu-repo/semantics/altIdentifier/wos/000947722400001; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdentifie

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67520
https://doi.org/10.1111/cge.14316

المؤلفون: Ashley B. Grossman, Nicole Bechmann, Felix Beuschlein, Karel Pacak, Graeme Eisenhofer, Martin Fassnacht, Svenja Nölting, David Taïeb, Matthias Kroiss

المصدر: Endocrine Reviews. 43:199-239

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Adrenal Gland Neoplasms, Susceptibility gene, Pheochromocytoma, Disease, medicine.disease, Phenotype, Biochemical phenotype, Metastasis, Paraganglioma, Endocrinology, Germline mutation, Internal medicine, Mutation, medicine, Humans, business, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f16e193d518c9f59b9f9f7571f07f97
https://doi.org/10.1210/endrev/bnab019

المؤلفون: Romanello M., Zampieri S., Bortolotti N., Deroma L., Sechi A., Fiumara A., Parini R., Borroni B., Brancati F., Bruni A., Russo C. V., Bordugo A., Bembi B., Dardis A.

المساهمون: Romanello, M., Zampieri, S., Bortolotti, N., Deroma, L., Sechi, A., Fiumara, A., Parini, R., Borroni, B., Brancati, F., Bruni, A., Russo, C. V., Bordugo, A., Bembi, B., Dardis, A.

مصطلحات موضوعية: Liquid chromatography-tandem–mass spectrometry, Niemann-Pick, Oxysterol, Variant biochemical phenotype

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000373655100007; volume:455; firstpage:39; lastpage:45; numberofpages:7; journal:CLINICA CHIMICA ACTA; https://hdl.handle.net/11588/908217; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84955491530

الاتاحة: https://hdl.handle.net/11588/908217
https://doi.org/10.1016/j.cca.2016.01.003

المؤلفون: Dulce Quelhas, Sérgio F. Sousa, Jaak Jaeken, Mónica Lopes-Marques, S.S. Teixeira Carla, João Carneiro, Carlos Ferreira, J.F. Rocha, Esmeralda Martins, Luísa Azevedo

المصدر: Molecular genetics and metabolism. 134(4)

مصطلحات موضوعية: Protein Conformation, Protein Stability, Endocrinology, Diabetes and Metabolism, In silico, Mutation, Missense, Protein level, Phosphomannomutase 2 deficiency, Computational biology, Biology, Molecular Dynamics Simulation, Pathogenicity, Biochemistry, Biochemical phenotype, Endocrinology, Protein stability, Phosphotransferases (Phosphomutases), Genetics, Amino acid residue, Protein Multimerization, Molecular Biology, Relevant information

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34ff47e0469e4e2f21e7a22f29316fb5
https://pubmed.ncbi.nlm.nih.gov/34863624

المؤلفون: Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter, Alida E.M. van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J. Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L. Ladda, Susan L. Sell, Catherine B. Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V. Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A. Gahl, Ellen F. Macnamara, Lynne Wolfe, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao-Tuan Chao, Gary D. Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa T. Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Ronit Marom, Paolo M. Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward Behrens, Matthew Deardorff, Marni Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie-Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith, Rebecca C. Spillmann, Jennifer A. Sullivan, Queenie K.-G. Tan, Nicole M. Walley, Pankaj B. Agrawal, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Cynthia M. Cooper, Elizabeth L. Fieg, Frances High, Ingrid A. Holm, Susan Korrick, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Deepak A. Rao, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Melissa Walker, Chris A. Walsh, Cecilia Esteves, Emily G. Kelley, Isaac S. Kohane, Kimberly LeBlanc, Alexa T. McCray, Anna Nagy, Surendra Dasari, Brendan C. Lanpher, Ian R. Lanza, Eva Morava, Devin Oglesbee, Guney Bademci, Deborah Barbouth, Stephanie Bivona, Olveen Carrasquillo, Ta Chen Peter Chang, Irman Forghani, Alana Grajewski, Rosario Isasi, Byron Lam, Roy Levitt, Xue Zhong Liu, Jacob McCauley, Ralph Sacco, Mario Saporta, Judy Schaechter, Mustafa Tekin, Fred Telischi, Willa Thorson, Stephan Zuchner, Heather A. Colley, Jyoti G. Dayal, David J. Eckstein, Laurie C. Findley, Donna M. Krasnewich, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Grace L. LaMoure, Madison P. Goldrich, Tiina K. Urv, Argenia L. Doss, Maria T. Acosta, Carsten Bonnenmann, Precilla D’Souza, David D. Draper, Carlos Ferreira, Rena A. Godfrey, Catherine A. Groden, Valerie V. Maduro, Thomas C. Markello, Avi Nath, Donna Novacic, Barbara N. Pusey, Colleen E. Wahl, Eva Baker, Elizabeth A. Burke, David R. Adams, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, John Yang, Bradley Power, Bernadette Gochuico, Laryssa Huryn, Lea Latham, Joie Davis, Deborah Mosbrook-Davis, Francis Rossignol, Ben Solomon, John MacDowall, Audrey Thurm, Wadih Zein, Muhammad Yousef, Margaret Adam, Laura Amendola, Michael Bamshad, Anita Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth Blue, Brenna Boyd, Peter Byers, Sirisak Chanprasert, Michael Cunningham, Katrina Dipple, Daniel Doherty, Dawn Earl, Ian Glass, Katie Golden-Grant, Sihoun Hahn, Anne Hing, Fuki M. Hisama, Martha Horike-Pyne, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Christina Lam, Kenneth Maravilla, Heather Mefford, J. Lawrence Merritt, Ghayda Mirzaa, Deborah Nickerson, Wendy Raskind, Natalie Rosenwasser, C. Ron Scott, Angela Sun, Virginia Sybert, Stephanie Wallace, Mark Wener, Tara Wenger, Euan A. Ashley, Gill Bejerano, Jonathan A. Bernstein, Devon Bonner, Terra R. Coakley, Liliana Fernandez, Paul G. Fisher, Laure Fresard, Jason Hom, Yong Huang, Jennefer N. Kohler, Elijah Kravets, Marta M. Majcherska, Beth A. Martin, Shruti Marwaha, Colleen E. McCormack, Archana N. Raja, Chloe M. Reuter, Maura Ruzhnikov, Jacinda B. Sampson, Kevin S. Smith, Shirley Sutton, Holly K. Tabor, Brianna M. Tucker, Matthew T. Wheeler, Diane B. Zastrow, Chunli Zhao, William E. Byrd, Andrew B. Crouse, Matthew Might, Mariko Nakano-Okuno, Jordan Whitlock, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martin G. Martin, Julian A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves-Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Rebecca H. Signer, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Jeremy D. Woods, Justin Alvey, Ashley Andrews, Jim Bale, John Bohnsack, Lorenzo Botto, John Carey, Laura Pace, Nicola Longo, Gabor Marth, Paolo Moretti, Aaron Quinlan, Matt Velinder, Dave Viskochil, Pinar Bayrak-Toydemir, Rong Mao, Monte Westerfield, Anna Bican, Laura Duncan, Rizwan Hamid, Jennifer Kennedy, Mary Kozuira, John H. Newman, John A. Phillips, Lynette Rives, Amy K. Robertson, Emily Solem, Joy D. Cogan, F. Sessions Cole, Nichole Hayes, Dana Kiley, Kathy Sisco, Jennifer Wambach, Daniel Wegner, Dustin Baldridge, Stephen Pak, Timothy Schedl, Jimann Shin, Lilianna Solnica-Krezel, Quinten Waisfisz, Petra J.G. Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C. Kruer, Antoine H.C. van Kampen, Ronald J.A. Wanders, Hans R. Waterham, David Cassiman, Frédéric M. Vaz

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Methodology, Epidemiology and Data Science, APH - Personalized Medicine, Laboratory for General Clinical Chemistry, ARD - Amsterdam Reproduction and Development, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Reproduction & Development (AR&D)

المصدر: Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, ' An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids ', Genetics in Medicine, vol. 23, no. 4, pp. 740-750 . https://doi.org/10.1038/s41436-020-01027-3
Genetics in medicine, 23(4), 740-750. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 740-750. Lippincott Williams and Wilkins
Genetics in Medicine

مصطلحات موضوعية: Candidate gene, Hereditary spastic paraplegia, Undiagnosed Diseases Network, Neurological disorder, Biology, medicine.disease, Molecular biology, Article, Biochemical phenotype, Bilateral Cataracts, Gene panel, medicine, Ether lipid synthesis, In patient, Genetics (clinical)

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7555a4f7ad513cd27a19bc291769dccc
https://research.vumc.nl/en/publications/fb984bc3-54bd-43df-883f-07db1704516c

المؤلفون: Christian A Vannarath, Betcy Evangeline, Anna Oommen, V. Prabhakaran, Douglas A. Drevets, Vedantam Rajshekhar, Michael G. Anderson, Hélène Carabin, James R. Couch, James R. Hocker, Jay S. Hanas

المصدر: Brain Sciences
Brain Sciences, Vol 10, Iss 504, p 504 (2020)
Volume 10
Issue 8

مصطلحات موضوعية: Oncology, Group based, medicine.medical_specialty, Biochemical phenotype, Serum profiling, Article, lcsh:RC321-571, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurologic function, Neuroimaging, Internal medicine, medicine, Patient group, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, mass spectrometry, 0303 health sciences, business.industry, General Neuroscience, medicine.disease, Phenotype, monitoring, phenotype analysis, epilepsy, serum profiling, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe7db653501f7bb1504334c5ce73533
https://pubmed.ncbi.nlm.nih.gov/32751954

المؤلفون: Shanmugasundaram Ganapathy-Kanniappan

المصدر: Expert Opinion on Therapeutic Targets. 22:295-298

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, biology, Chemistry, Clinical Biochemistry, Tumor glycolysis, Metabolic reprogramming, Energy metabolism, Druggability, Glyceraldehyde-3-Phosphate Dehydrogenases, Antineoplastic Agents, Koningic acid, Warburg effect, Biochemical phenotype, 03 medical and health sciences, 030104 developmental biology, Biochemistry, Drug Design, Neoplasms, Drug Discovery, biology.protein, Humans, Molecular Medicine, Glycolysis, Glyceraldehyde 3-phosphate dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9bc23a60481f0f7aec1e1bff46854cf
https://doi.org/10.1080/14728222.2018.1449834

المؤلفون: Korsten, Alex, de Coo, Irenaeus F M, Spruijt, Liesbeth, de Wit, L. Elly A., Smeets, Hubert J. M., Sluiter, Wim

المصدر: Korsten , A , de Coo , I F M , Spruijt , L , de Wit , L E A , Smeets , H J M & Sluiter , W 2010 , ' Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation ' , Biochimica et Biophysica Acta-bioenergetics , vol. 1797 , no. 2 , pp. 197-203 . https://doi.org/10.1016/j.bbabio.2009.10.003

مصطلحات موضوعية: Biochemical phenotype, Leber hereditary optic neuropathy, Mitochondrial density, Oxidative phosphorylation, Peripheral blood mononuclear cell

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/e5f4e0a0-0277-4793-8682-054eed9e4d0d
https://doi.org/10.1016/j.bbabio.2009.10.003

المؤلفون: R. Groenteman, Arvind K. Subbaraj, D. Paul Barrett, Andrea Clavijo-McCormick, Simon V. Fowler

المصدر: Biological Control. 160:104663

مصطلحات موضوعية: 0106 biological sciences, Abiotic component, Herbivore, business.industry, fungi, Biological pest control, food and beverages, Biology, 01 natural sciences, Biochemical phenotype, Biotechnology, 010602 entomology, Molecular level, Metabolomics, Insect Science, Identification (biology), business, Weed, Agronomy and Crop Science, 010606 plant biology & botany

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::50d8b110786efd0deb4c4d2fc042939f
https://doi.org/10.1016/j.biocontrol.2021.104663

المؤلفون: A. Frisoli

المصدر: Osteoporosis International. 28:99-126

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, business.industry, Endocrinology, Diabetes and Metabolism, Immunology, Medicine, 030209 endocrinology & metabolism, 030101 anatomy & morphology, business, Biochemical phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57481e7f14800dade9777a0032cde137
https://doi.org/10.1007/s00198-017-3943-1

المؤلفون: Anthony H.V. Schapira, Huw R. Morris

المصدر: Nature Reviews Neurology. 16:245-246

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, business.industry, Dopaminergic, food and beverages, Disease, Bioinformatics, medicine.disease, Biochemical phenotype, Young onset Parkinson disease, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b1ec7cc8ae6721a50bf615849159e09
https://doi.org/10.1038/s41582-020-0343-5

المؤلفون: Sean T. Mochal, Nicoletta Drilias, Jessica Scott Schwoerer, Mei W. Baker, Ashley Kuhl

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 75-77 (2018)

مصطلحات موضوعية: 0301 basic medicine, lcsh:R5-920, Genotype, Phenylalanine hydroxylase, Short Communication, Physiology, 030105 genetics & heredity, Biology, Medical care, Phenotype, Biochemical phenotype, 03 medical and health sciences, Endocrinology, lcsh:Biology (General), Genetics, biology.protein, Phenylketonuria, lcsh:Medicine (General), Neonatal screening, PAH deficiency, lcsh:QH301-705.5, Molecular Biology, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae15a0460c1ed0c3c0400449d780803d
https://doi.org/10.1016/j.ymgmr.2018.02.005

المؤلفون: Yue Yao, Hidekazu Nagano, Tomoaki Tanaka, Ikki Sakuma, Masanori Fujimoto, Koutaro Yokote

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Genetics, Categorization, Endocrinology, Diabetes and Metabolism, Genotype, Fructose 1,6-bisphosphatase, biology.protein, Diabetes and Metabolic Disease: Genes, Diet, and Environment, Biology, Diabetes Mellitus and Glucose Metabolism, Biochemical phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1137c411ee0a7cb7da60be72775b010
https://doi.org/10.1210/js.2019-mon-188

المؤلفون: Nenad Blau, Ron A. Wevers

المساهمون: University of Zurich, Wevers, Ron A

المصدر: Journal of Inherited Metabolic Disease, 41, 281-283
Journal of Inherited Metabolic Disease, 41, 3, pp. 281-283

مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), Biomedical Research, 610 Medicine & health, Computational biology, Biology, Biochemical phenotype, 03 medical and health sciences, Metabolomics, Phenomics, 1311 Genetics, Genetics, Humans, Microbiome, Patient group, Genetics (clinical), Genomics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Omics, Human genetics, High-Throughput Screening Assays, 030104 developmental biology, Untargeted metabolomics, Knowledge, 10036 Medical Clinic, Research Design

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8e5881547d6baa54deb9f63f111b6a
https://doi.org/10.1007/s10545-018-0165-4

المؤلفون: T.P. Kruthika-Vinod, Muntaj Shaik, Mahesh Kamate, Anakala Basappa Vedamurthy

المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 724-726 (2020)
Annals of Indian Academy of Neurology

مصطلحات موضوعية: Genetics, business.industry, Glutaric aciduria, Medicine, Identification (biology), Glutaryl-CoA dehydrogenase, Neurology (clinical), Letters to the Editor, business, Gene, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429, Biochemical phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::198b65cbe0b34f5bb025be08ff6bf36d
https://doi.org/10.4103/aian.aian_188_19

المؤلفون: Neema Jamshidi, Andreas Dräger, Reihaneh Mostolizadeh

المصدر: High-Throughput Metabolomics ISBN: 9781493992355

مصطلحات موضوعية: 0303 health sciences, Dynamic network analysis, Computer science, Systems biology, 0206 medical engineering, Metabolic network, Context (language use), 02 engineering and technology, Computational biology, Biochemical phenotype, 03 medical and health sciences, Order (biology), Metabolomics, 020602 bioinformatics, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aa105ea719b2cd4083f887cd3d18d45e
https://doi.org/10.1007/978-1-4939-9236-2_15

المؤلفون: Sandra Regina Morini da Silva, Carlos Veo, R.B. Tomioka, Celso R Silva, Irmgard Himmel, Edson Guimaraes Loturco, Gustavo Arantes Rosa Maciel, José Salvador Rodrigues de Oliveira, Iara Baldim Rabelo, Heidi Fiegl, Maria Izabel Chiamolera, André Lopes Carvalho, Patricia Eiko Yamakawa, Robert A. Nagourney, Carolina Stella, Ricardo Sobhie Diaz, Celso Francisco Hernandes Granato, Antônio Augusto Ferreira Carioca, Cristovam Scapulatempo Neto, Dirce Maria Lobo Marchioni, Clovis A. Silva, Christina Troi, Paulo D'Amora, Rene da Costa Vieira, Delcio Matos, Bruno Scarpellini, Ismael Dale Cotrim Guerreiro da Silva, Rui M. B. Maciel, Rosa Paula M. Biscolla, Renato Fraietta, Marcelo A. Mori, Felipe C.G. Reis, Marcia Batista Salzgeber, Edmund Chada Baracat, Daniel Egle

المصدر: Oncotarget

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, medicine.medical_treatment, Early detection, Hematologic Neoplasms, survival, Biochemical phenotype, Malignant transformation, 03 medical and health sciences, Breast cancer, breast cancer, Internal medicine, Medicine, Breast carcinogenesis, skin and connective tissue diseases, Chemotherapy, Squamous cell cancer, response, business.industry, medicine.disease, 030104 developmental biology, prognosis, business, metabolism, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a74dd310ddcc39afb2d8266556802cac
https://pubmed.ncbi.nlm.nih.gov/30167086