المؤلفون: Chen, Jian-Hua, Segni, Maria, Payne, Felicity, Huang-Doran, Isabel, Sleigh, Alison, Adams, Claire, UK10K Consortium, Savage, David B, O'Rahilly, Stephen, Semple, Robert K, Barroso, Inês

مصطلحات موضوعية: POC1A, centriole, centrosome, diabetes, dyslipidaemia, insulin resistance, primary cilium, short stature, skeletal dysplasia, Adult, Amino Acid Sequence, Body Height, Cell Cycle, Cell Cycle Proteins, Centrioles, Cytoskeletal Proteins, Dwarfism, Facies, Fatty Liver, Female, Frameshift Mutation, Humans, Mitosis, Molecular Sequence Data, Protein Isoforms, Proteins, Sequence Alignment, Spindle Apparatus

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/250316Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/250316Test

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 , ....

مصطلحات موضوعية: Centriole, Centrosome, Diabetes, Dyslipidaemia, Insulin resistance, POC1A, Primary cilium, Short stature, Skeletal dysplasia

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1530/JME-15-0090Test
https://kclpure.kcl.ac.uk/portal/en/publications/d61d06c4-8857-4007-8c83-4b2d00906f0aTest
https://kclpure.kcl.ac.uk/ws/files/48312822/147.full.pdfTest
http://www.scopus.com/inward/record.url?scp=84944314739&partnerID=8YFLogxKTest

المؤلفون: Jian-Hua Chen^1,2, Segni, Maria³, Payne, Felicity⁴, Huang-Doran, Isabel^1,2, Sleigh, Alison^5,6, Adams, Claire^1,2, Savage, David B.^1,2, O'Rahilly, Stephen^1,2, Semple, Robert K.^1,2 rks16@cam.ac.uk, Barroso, Inês^1,2,4 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