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المؤلفون: Chen, Jian Hua, Segni, Maria, Payne, Felicity, Huang-Doran, Isabel, Sleigh, Alison, Adams, Claire, Durbin, Richard, Muddyman, Dawn, Soranzo, Nicole, Timpson, Nic, Spector, Tim, Richards, Bren, Palotie, Aarno, Owen, Michael, Barrett, Jeff, Geschwind, Daniel, Hurles, Matt, Fitzpatrick, David, Barroso, Inês, Farooqi, Sadaf, Zeggini, Eleftheria, Kaye, Jane, Kennedy, Karen, McCarthy, Shane, Stalker, Jim, Langford, Cordelia, Keane, Thomas, Savage, David B., O’Rahilly, Stephen, Semple, Robert K.
المصدر: Chen, J H, Segni, M, Payne, F, Huang-Doran, I, Sleigh, A, Adams, C, Durbin, R, Muddyman, D, Soranzo, N, Timpson, N, Spector, T, Richards, B, Palotie, A, Owen, M, Barrett, J, Geschwind, D, Hurles, M, Fitzpatrick, D, Barroso, I, Farooqi, S, Zeggini, E, Kaye, J, Kennedy, K, McCarthy, S, Stalker, J, Langford, C, Keane, T, Savage, D B, O’Rahilly, S & Semple, R K 2015, ' Truncation of POC1A associated with short stature and extreme insulin resistance ', Journal of Molecular Endocrinology, vol. 55, no. 2, pp. 147-158 . https://doi.org/10.1530/JME-15-0090Test
مصطلحات موضوعية: Adult, Dyslipidaemia, Molecular Sequence Data, Mitosis, Cell Cycle Proteins, Dwarfism, Spindle Apparatus, Article, POC1A, Humans, Protein Isoforms, Amino Acid Sequence, Frameshift Mutation, Centrioles, Centrosome, Primary cilium, Diabetes, Cell Cycle, Facies, Proteins, Insulin resistance, Centriole, centriole, centrosome, diabetes, dyslipidaemia, insulin resistance, primary cilium, short stature, skeletal dysplasia, Body Height, Fatty Liver, Short stature, Cytoskeletal Proteins, Skeletal dysplasia, Female, Insulin Resistance, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5372ee0fa257b487c0ac64b6506b693cTest
https://pubmed.ncbi.nlm.nih.gov/26336158Test -
2دورية أكاديمية
المؤلفون: Jian-Hua Chen1,2, Segni, Maria3, Payne, Felicity4, Huang-Doran, Isabel1,2, Sleigh, Alison5,6, Adams, Claire1,2, Savage, David B.1,2, O'Rahilly, Stephen1,2, Semple, Robert K.1,2 rks16@cam.ac.uk, Barroso, Inês1,2,4 ib1@sanger.ac.uk
المصدر: Journal of Molecular Endocrinology. Oct2015, Vol. 55 Issue 2, p147-158. 12p.
مصطلحات موضوعية: *SHORT stature, *INSULIN resistance, *SKELETAL dysplasia, *FATTY liver, *DNA damage