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Results 1 - 4 of 4 for Schindler "disease," type 1
  1. ... acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 1 National Organization for Rare Disorders (NORD) ClinicalTrials.gov SCHINDLER DISEASE, TYPE I KANZAKI DISEASE PubMed Blanchon YC, Gay ...
  2. ... Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004 Sep 15;130A(1):55-72. doi: 10.1002/ajmg.a.30203. Citation on PubMed Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van ...
  3. ... B, Doxsey SJ. Pericentrin in cellular function and disease. J Cell Biol. 2010 Jan 25;188(2):181-90. doi: 10.1083/jcb.200908114. Epub 2009 Dec 1. Citation on PubMed or Free article on PubMed Central Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van ...
  4. ... Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub ...