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The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.
Talarico R, Aguilera S, Alexander T, Amoura Z, Andersen J, Arnaud L, Avcin T, Marsal Barril S, Beretta L, Bombardieri S, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Corti P, Costedoat-Chalumeau N, Dāvidsone Z, Doria A, Fenech C, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Guimarães V, Hachulla E, Holmner M, Houssiau F, Iaccarino L, Jacobsen S, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Milas-Ahić J, Moinzadeh P, Montecucco C, Mouthon L, Müller-Ladner U, Nagy G, Patarata E, Pileckyte M, Pruunsild C, Rednic S, Romão VC, Schneider M, Scirè CA, Smith V, Sulli A, Tamirou F, Tani C, Taruscio D, Taulaigo AV, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Viera A, de Vries-Bouwstra JK, Zschocke J, Cutolo M, Mosca M. Talarico R, et al. Among authors: zschocke j. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):3-11. doi: 10.55563/clinexprheumatol/d2qz38. Epub 2022 Mar 29. Clin Exp Rheumatol. 2022. PMID: 35349419 Free article. Review.
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Hollak CE, et al. Among authors: zschocke j. Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5. Orphanet J Rare Dis. 2016. PMID: 26809514 Free PMC article.
Oral manifestations of Ehlers-Danlos syndromes.
Lepperdinger U, Zschocke J, Kapferer-Seebacher I. Lepperdinger U, et al. Among authors: zschocke j. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):520-526. doi: 10.1002/ajmg.c.31941. Epub 2021 Nov 6. Am J Med Genet C Semin Med Genet. 2021. PMID: 34741498 Free PMC article. Review.
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.
Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: zschocke j. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Houten SM, et al. Among authors: zschocke j. Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. Orphanet J Rare Dis. 2013. PMID: 23570448 Free PMC article.
Quo vadis: the re-definition of "inborn metabolic diseases".
Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Morava E, et al. Among authors: zschocke j. J Inherit Metab Dis. 2015 Nov;38(6):1003-6. doi: 10.1007/s10545-015-9893-x. Epub 2015 Sep 29. J Inherit Metab Dis. 2015. PMID: 26420281 No abstract available.
Peer review fraud-it's not big and it's not clever.
Rahman S, Baumgartner MR, Morava E, Patterson M, Peters V, Zschocke J. Rahman S, et al. Among authors: zschocke j. J Inherit Metab Dis. 2016 Jan;39(1):1-2. doi: 10.1007/s10545-015-9905-x. Epub 2015 Dec 11. J Inherit Metab Dis. 2016. PMID: 26660661 No abstract available.
Issues with European guidelines for phenylketonuria.
Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Burgard P, et al. Among authors: zschocke j. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. Lancet Diabetes Endocrinol. 2017. PMID: 28842158 No abstract available.
Quo vadis now: Beyond genomics to an era of personalised medicine.
Rahman S, Baumgartner M, Morava E, Patterson M, Peters V, Zschocke J. Rahman S, et al. Among authors: zschocke j. J Inherit Metab Dis. 2022 Mar;45(2):129-131. doi: 10.1002/jimd.12487. Epub 2022 Feb 28. J Inherit Metab Dis. 2022. PMID: 35229313 No abstract available.
335 results