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.

المساهمون: 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, Inê, Farooqi, Sadaf, Zeggini, Eleftheria, Kaye, Jane, Kennedy, Karen, Mccarthy, Shane, Stalker, Jim, Langford, Cordelia, Keane, Thoma, Savage, David B., O’Rahilly, Stephen, Semple, Robert K.

مصطلحات موضوعية: POC1A, centriole, centrosome, diabete, dyslipidaemia, insulin resistance, primary cilium, short stature, skeletal dysplasia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26336158; info:eu-repo/semantics/altIdentifier/wos/WOS:000365033300009; volume:55; issue:2; firstpage:147; lastpage:158; numberofpages:12; journal:JOURNAL OF MOLECULAR ENDOCRINOLOGY; http://hdl.handle.net/11573/891593Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944314739; http://jme.endocrinology-journals.org/content/55/2/147.full.pdfTest

الإتاحة: https://doi.org/10.1530/JME-15-0090Test
http://hdl.handle.net/11573/891593Test
http://jme.endocrinology-journals.org/content/55/2/147.full.pdfTest

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: 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