Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

BB Beck; A Baasner; A Buescher; S Habbig; N Reintjes; MJ Kemper; P Sikora; Christoph Mache; M Pohl; M Stahl; B Toenshoff; L Pape; H Fehrenbach; DE Jacob; B Grohe; MT Wolf; G Nürnberg; G Yigit; EC Salido; B Hoppe

doi:10.1038/ejhg.2012.139

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

BB Beck
, A Baasner
, A Buescher
, S Habbig
, N Reintjes
, MJ Kemper
, P Sikora
, Christoph Mache
, M Pohl
, M Stahl
, B Toenshoff
, L Pape
, H Fehrenbach
, DE Jacob
, B Grohe
, MT Wolf
, G Nürnberg
, G Yigit
, EC Salido
, B Hoppe

Division of General Paediatrics

Research output: Contribution to journal › Research article

60 Citations (Web of Science)

Original language	English
Journal	European Journal of Human Genetics
DOIs	https://doi.org/10.1038/ejhg.2012.139
Publication status	Published - 2013

Branches of science

302 Clinical Medicine

DOI

10.1038/ejhg.2012.139

Links

Cite this

Beck, BB., Baasner, A., Buescher, A., Habbig, S., Reintjes, N., Kemper, MJ., Sikora, P., Mache, C., Pohl, M., Stahl, M., Toenshoff, B., Pape, L., Fehrenbach, H., Jacob, DE., Grohe, B., Wolf, MT., Nürnberg, G., Yigit, G., Salido, EC., & Hoppe, B. (2013). Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2012.139

@article{08f64df39e1e431dbe7fbce46f3dfc9b,

title = "Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.",

author = "BB Beck and A Baasner and A Buescher and S Habbig and N Reintjes and MJ Kemper and P Sikora and Christoph Mache and M Pohl and M Stahl and B Toenshoff and L Pape and H Fehrenbach and DE Jacob and B Grohe and MT Wolf and G N{\"u}rnberg and G Yigit and EC Salido and B Hoppe",

year = "2013",

doi = "10.1038/ejhg.2012.139",

language = "English",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

Beck, BB, Baasner, A, Buescher, A, Habbig, S, Reintjes, N, Kemper, MJ, Sikora, P, Mache, C, Pohl, M, Stahl, M, Toenshoff, B, Pape, L, Fehrenbach, H, Jacob, DE, Grohe, B, Wolf, MT, Nürnberg, G, Yigit, G, Salido, EC & Hoppe, B 2013, 'Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.', European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2012.139

TY - JOUR

T1 - Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

AU - Beck, BB

AU - Baasner, A

AU - Buescher, A

AU - Habbig, S

AU - Reintjes, N

AU - Kemper, MJ

AU - Sikora, P

AU - Mache, Christoph

AU - Pohl, M

AU - Stahl, M

AU - Toenshoff, B

AU - Pape, L

AU - Fehrenbach, H

AU - Jacob, DE

AU - Grohe, B

AU - Wolf, MT

AU - Nürnberg, G

AU - Yigit, G

AU - Salido, EC

AU - Hoppe, B

PY - 2013

Y1 - 2013

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000314003300006

UR - https://pubmed.ncbi.nlm.nih.gov/22781098

UR - https://pmc.ncbi.nlm.nih.gov/articles/PMC3548260

U2 - 10.1038/ejhg.2012.139

DO - 10.1038/ejhg.2012.139

M3 - Research article

C2 - 22781098

SN - 1018-4813

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -