Schneckenbecken-Dysplasie (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Schneckenbecken-Dysplasie" in German language version.

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doi.org

  • Z. Borochowitz, K. L. Jones, R. Silbey, G. Adomian, R. Lachman, D. L. Rimoin: A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. In: American journal of medical genetics, Band 25, Nr. 1, September 1986, S. 47–59, doi:10.1002/ajmg.1320250107, PMID 3799723.
  • H. Lee, L. Nevarez, R. S. Lachman, W. R. Wilcox, D. Krakow, D. H. Cohn: A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). In: American journal of medical genetics. Part A, Band 167A, Nr. 10, Oktober 2015, S. 2470–2473, doi:10.1002/ajmg.a.37173, PMID 25997753, PMC 5036935 (freier Volltext).

nih.gov

ncbi.nlm.nih.gov

  • Z. Borochowitz, K. L. Jones, R. Silbey, G. Adomian, R. Lachman, D. L. Rimoin: A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. In: American journal of medical genetics, Band 25, Nr. 1, September 1986, S. 47–59, doi:10.1002/ajmg.1320250107, PMID 3799723.
  • H. Lee, L. Nevarez, R. S. Lachman, W. R. Wilcox, D. Krakow, D. H. Cohn: A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). In: American journal of medical genetics. Part A, Band 167A, Nr. 10, Oktober 2015, S. 2470–2473, doi:10.1002/ajmg.a.37173, PMID 25997753, PMC 5036935 (freier Volltext).

rarediseases.info.nih.gov

omim.org

orpha.net