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Page 1
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Among authors: wienker tf. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.
Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.
Stöber G, Saar K, Rüschendorf F, Meyer J, Nürnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H. Stöber G, et al. Among authors: wienker tf. Am J Hum Genet. 2000 Nov;67(5):1201-7. doi: 10.1016/S0002-9297(07)62950-4. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001582 Free PMC article.
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Among authors: wienker tf. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396
251 results