المؤلفون: Laine, CM, Joeng, KS, Campeau, PM, Kiviranta, R, Tarkkonen, K, Grover, M, Lu, JT, Pekkinen, M, Wessman, M, Heino, TJ, Nieminen-Pihala, V, Aronen, M, Laine, T, Kroger, H, Cole, WG, Lehesjoki, AE, Nevarez, L, Krakow, D, Curry, CJR, Cohn, DH, Gibbs, RA, Lee, BH, Makitie, O

المصدر: The New England journal of medicine. 368(19):1809-1816

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:126660675

المؤلفون: Korvala, J, Loija, M, Makitie, O, Sochett, E, Juppner, H, Schnabel, D, Mora, S, Cole, WG, Ala-Kokko, L, Mannikko, M

المصدر: European journal of medical genetics. 55(10):515-519

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125423188

المؤلفون: Wenstrup, RJ, Langland, GT, Willing, MC, D'Souza, VN, Cole, WG

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/11/1733; http://dx.doi.org/10.1093/hmg/5.11.1733

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/5/11/1733
https://doi.org/10.1093/hmg/5.11.1733

المؤلفون: Canavese F, Wright JG, Cole WG, Hopyan S

المساهمون: Canavese, F, Wright, Jg, Cole, Wg, Hopyan, S

مصطلحات موضوعية: Unicameral Bone Cyst, Surgical Treatment, Percutaneous

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21150732; info:eu-repo/semantics/altIdentifier/wos/WOS:000287192700011; volume:31; firstpage:50; lastpage:55; numberofpages:5; journal:JOURNAL OF PEDIATRIC ORTHOPAEDICS; https://hdl.handle.net/11567/1187402; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78650940228

الاتاحة: https://hdl.handle.net/11567/1187402
https://doi.org/10.1097/BPO.0b013e3181ff7510

المؤلفون: Cole Wg

المصدر: Orthopedics. 7(10)

مصطلحات موضوعية: medicine.medical_specialty, Acute osteomyelitis, business.industry, Perspective (graphical), medicine, Orthopedics and Sports Medicine, Surgery, Intensive care medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e600dfeb6f3cf0423c5e6271091525fa
https://pubmed.ncbi.nlm.nih.gov/24822547

المؤلفون: COLE, WG, DALGLEISH, R

المصدر: Web of Science ; http://webofknowledge.com

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, TERMINAL PRO-ALPHA-1(I) PROPEPTIDE, ALPHA-1(I) COLLAGEN GENE, I COLLAGEN, TRIPLE HELIX, PRENATAL-DIAGNOSIS, CLINICAL-FEATURES, TRANSGENIC MICE, MESSENGER-RNA, N-PROTEINASE, MEDIATED RECOMBINATION

وصف الملف: metadata

Relation: JOURNAL OF MEDICAL GENETICS, 1995, 32 (4), pp. 284-289; http://hdl.handle.net/2381/26654

الاتاحة: http://hdl.handle.net/2381/26654
https://doi.org/10.1136/jmg.32.4.284

المؤلفون: Al-Subhi, Fs, Zuker, Rm, Cole, Wg

المصدر: Canadian Journal of Plastic Surgery ; volume 18, issue 4, page 139-142 ; ISSN 1195-2199

الاتاحة: http://dx.doi.org/10.1177/229255031001800412
http://journals.sagepub.com/doi/pdf/10.1177/229255031001800412

المؤلفون: Cheung, KMC, Cheah, KSE, Chan, D, Sillence, DO, BootHandford, RP, Gibson, G, Tsang, KY, Cole, WG, Ho, MSP, Lo, RLK, Susic, M, Mäkitie, O, Chan, TWY, Ng, VCW

مصطلحات موضوعية: Frameshift Mutation, Adolescent, Amino Acid Sequence, Animals, Sequence Deletion, RNA, Messenger - genetics, Phenotype, Osteochondrodysplasias - genetics - metabolism - pathology, Mice, Transgenic, Mutant Strains, Male, Humans, Growth Plate - pathology, Base Sequence, Chondrocytes - metabolism, Codon, Nonsense, Collagen Type X - biosynthesis - genetics, DNA - genetics

Relation: Human Molecular Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-34447294827&selection=ref&src=s&origin=recordpage; Human Molecular Genetics, 2007, v. 16 n. 10, p. 1201-1215; 1215; 128587; 141285; 145974; WOS:000247531100007; 10; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0964-6906&volume=16&issue=10&spage=1201&epage=15&date=2007&atitle=COL10A1+nonsense+and+frame-shift+mutations+have+a+gain-of-function+effect+on+the+growth+plate+in+human+and+mouse+metaphyseal+chondrodysplasia+type+Schmid.; eid_2-s2.0-34447294827; 1201; http://hdl.handle.net/10722/68228; 16

الاتاحة: https://doi.org/10.1093/hmg/ddm067
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0964-6906&volume=16&issue=10&spage=1201&epage=15&date=2007&atitle=COL10A1+nonsense+and+frame-shift+mutations+have+a+gain-of-function+effect+on+the+growth+plate+in+human+and+mouse+metaphyseal+chondrodysplasia+type+Schmid.
http://hdl.handle.net/10722/68228

المؤلفون: Bateman, JF, Rogers, JF, Chan, D, Cole, WG

مصطلحات موضوعية: Child, Preschool, Restriction Mapping, Procollagen - Genetics, Polymerase Chain Reaction, Osteochondrodysplasias - Congenital - Genetics, Mutation - Genetics, Molecular Sequence Data, Humans, Cysteine - Genetics, Collagen - Genetics, Base Sequence, Arginine - Genetics, Amino Acid Sequence

Relation: Journal of Rheumatology; Journal Of Rheumatology, 1995, v. 22 suppl. 43, p. 37-38; 38; suppl. 43; 7752132; eid_2-s2.0-0028963296; 37; http://hdl.handle.net/10722/148702; 22

الاتاحة: http://hdl.handle.net/10722/148702

المؤلفون: Cotterill SL, Jackson GC, Leighton MR, Wagener R, Makitie O, Cole WG, Briggs MD

المصدر: Human Mutation, 14-11-2005

Relation: https://eprints.ncl.ac.uk/186732

الاتاحة: https://eprints.ncl.ac.uk/186732

المؤلفون: Dietz, FR, Cole, WG, Tosi, LL, Carroll, NC, Wemer, RD, Comstock, D, Murray, JC

المصدر: Clinical Genetics ; volume 67, issue 4, page 361-362 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.1399-0004.2005.00407.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2005.00407.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2005.00407.x

المؤلفون: Jackson, Gail, Barker, FS, Jakkula, E, Czamy-Ratajczak, M, Makitie, O, Cole, WG, Wright, MJ, Smithson, SF, Suri, M, Rogala, P, Mortier, GR, Baldock, Clair, Wallace, A, Elles, Robert, Ala-Kokko, L, Briggs, Michael

المصدر: Jackson , G , Barker , FS , Jakkula , E , Czamy-Ratajczak , M , Makitie , O , Cole , WG , Wright , MJ , Smithson , SF , Suri , M , Rogala , P , Mortier , GR , Baldock , C , Wallace , A , Elles , R , Ala-Kokko , L & Briggs , M 2004 , ' Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. ' , Journal of Medical Genetics , vol. 41 , no. 1 , pp. 52-59 . ....

مصطلحات موضوعية: Adolescent, genetics: Amino Acid Sequence, Child, Preschool, methods: DNA Mutational Analysis, genetics: Exons, chemistry: Extracellular Matrix Proteins, Female, genetics: Glycoproteins, genetics: Haplotypes, Humans, Male, Models, Molecular, Molecular Sequence Data, genetics: Mutation, Missense, genetics: Osteochondrodysplasias, Pedigree, chemistry: Peptides, genetics: Protein Structure, Tertiary, Research Support, Non-U.S. Gov't

الاتاحة: https://research.manchester.ac.uk/en/publications/3fbfc3ba-9297-4045-ab50-64e5bd68e3c2
https://doi.org/10.1136/jmg.2003.011429

المؤلفون: Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD

المصدر: Journal of Medical Genetics, January 2004

Relation: https://eprints.ncl.ac.uk/68951

الاتاحة: https://eprints.ncl.ac.uk/68951

المؤلفون: JACKSON, GC, BARKER, FS, JAKKULA, E, CZARNY-RATAJCZAK, M, MAKITIE, O, COLE, WG, WRIGHT, MJ, SMITHSON, SF, SURI, M, ROGALA, P, Mortier, Geert, BALDOCK, C, WALLACE, A, ELLES, R, ALA-KOKKO, L, BRIGGS, MD

المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 1468-6244

مصطلحات موضوعية: Medicine and Health Sciences

Relation: https://biblio.ugent.be/publication/304994; http://hdl.handle.net/1854/LU-304994

الاتاحة: https://biblio.ugent.be/publication/304994
http://hdl.handle.net/1854/LU-304994

المؤلفون: Mäkitie, O, Ellis, L, Durie, PR, Morrison, JA, Sochett, EB, Rommens, JM, Cole, WG

المصدر: Clinical Genetics ; volume 65, issue 2, page 101-112 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.0009-9163.2004.00198.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0009-9163.2004.00198.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0009-9163.2004.00198.x

المؤلفون: Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG

المصدر: American Journal of Medical Genetics Part A, 21-08-2003

Relation: https://eprints.ncl.ac.uk/69562

الاتاحة: https://eprints.ncl.ac.uk/69562

المؤلفون: Plasschaert, Frank, Craig, C, Bell, R, Cole, WG, Wunder, JS, Alman, BA

المصدر: JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME ; ISSN: 0301-620X

مصطلحات موضوعية: Medicine and Health Sciences, BONE, LANGERHANS-CELL HISTIOCYTOSIS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/4267024; http://hdl.handle.net/1854/LU-4267024; http://dx.doi.org/10.1302/0301-620X.84B6.12585; https://biblio.ugent.be/publication/4267024/file/4267040

الاتاحة: https://biblio.ugent.be/publication/4267024
http://hdl.handle.net/1854/LU-4267024
https://doi.org/10.1302/0301-620X.84B6.12585
https://biblio.ugent.be/publication/4267024/file/4267040

المؤلفون: Mundlos, S, Otto, F, Mundlos, C, Mulliken, JB, Aylsworth, AS, Albright, S, Lindhout, D (Dick), Cole, WG, Henn, W, Knoll, JHM, Owen, MJ, Mertelsmann, R, Zabel, BU, Olsen, BR

المصدر: Mundlos , S , Otto , F , Mundlos , C , Mulliken , JB , Aylsworth , AS , Albright , S , Lindhout , D , Cole , WG , Henn , W , Knoll , JHM , Owen , MJ , Mertelsmann , R , Zabel , BU & Olsen , BR 1997 , ' Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia ' , Cell , vol. 89 , pp. 773-779 .

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/bab93b97-1509-4ad9-ae6b-563923fd89ea

المؤلفون: Mundlos, S, Chan, D, Weng, YM, Sillence, DO, Cole, WG, Bateman, JF

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Humans, Skin - Metabolism, Sequence Deletion, Osteogenesis Imperfecta - Genetics - Pathology, Mutation, Molecular Sequence Data, Base Sequence, Bone And Bones - Metabolism, Cells, Cultured, Child, Male, Collagen - Genetics - Metabolism, Dna, Complementary, Exons, Extracellular Matrix - Metabolism, Female

Relation: Journal of Biological Chemistry; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0029787444&selection=ref&src=s&origin=recordpage; Journal Of Biological Chemistry, 1996, v. 271 n. 35, p. 21068-21074; 21074; WOS:A1996VE47700019; 35; 8702873; eid_2-s2.0-0029787444; 21068; http://hdl.handle.net/10722/147404; 271

الاتاحة: https://doi.org/10.1074/jbc.271.35.21068
http://hdl.handle.net/10722/147404

المؤلفون: Cole, WG, Chan, D, Chow, CW, Rogers, JG, Bateman, JF

مصطلحات موضوعية: Collagen - Chemistry - Genetics, Child, Preschool, Bone And Bones - Radiography, Arm - Abnormalities - Pathology, Adult, Adolescent, Valine - Genetics, Thorax - Abnormalities, Pregnancy, Osteogenesis Imperfecta - Genetics - Pathology - Radiography, Mutation, Male, Infant, Newborn, Humans, Growth Plate - Pathology, Glycine - Genetics, Female

Relation: Journal of Medical Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0029848586&selection=ref&src=s&origin=recordpage; Journal Of Medical Genetics, 1996, v. 33 n. 11, p. 968-971; 971; WOS:A1996VU42300015; 11; 8950681; eid_2-s2.0-0029848586; 968; http://hdl.handle.net/10722/147406; 33

الاتاحة: http://hdl.handle.net/10722/147406