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Page 1
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.
Jungraithmayr TC, Hofer K, Cochat P, Chernin G, Cortina G, Fargue S, Grimm P, Knueppel T, Kowarsch A, Neuhaus T, Pagel P, Pfeiffer KP, Schäfer F, Schönermarck U, Seeman T, Toenshoff B, Weber S, Winn MP, Zschocke J, Zimmerhackl LB. Jungraithmayr TC, et al. Among authors: zschocke j. J Am Soc Nephrol. 2011 Mar;22(3):579-85. doi: 10.1681/ASN.2010010029. Epub 2011 Feb 25. J Am Soc Nephrol. 2011. PMID: 21355056 Free PMC article.
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
CNDP1 genotype and renal survival in pediatric nephropathies.
Peters V, Kebbewar M, Janssen B, Hoffmann GF, Möller K, Wygoda S, Charbit M, Fernandes-Teixeira A, Jeck N, Zschocke J, Schmitt CP, Schäfer F, Wühl E; ESCAPE Trial Group. Peters V, et al. Among authors: zschocke j. J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):827-33. doi: 10.1515/jpem-2015-0262. J Pediatr Endocrinol Metab. 2016. PMID: 27278783
Clinical utility gene card for: Phenylketonuria.
Zschocke J, Haverkamp T, Møller LB. Zschocke J, et al. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915151 Free PMC article. No abstract available.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: zschocke j. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606
Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: zschocke j. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Among authors: zschocke j. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
350 results