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263 results
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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.
Stibler H, Stephani U, Kutsch U. Stibler H, et al. Among authors: stephani u. Neuropediatrics. 1995 Oct;26(5):235-7. doi: 10.1055/s-2007-979762. Neuropediatrics. 1995. PMID: 8552211
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K. Körner C, et al. Among authors: stephani u. EMBO J. 1999 Dec 1;18(23):6816-22. doi: 10.1093/emboj/18.23.6816. EMBO J. 1999. PMID: 10581255 Free PMC article.
Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome.
Hoffmann-Riem M, Diener W, Benninger C, Rating D, Unnebrink K, Stephani U, Ernst HP, Korinthenberg R. Hoffmann-Riem M, et al. Among authors: stephani u. Neuropediatrics. 2000 Aug;31(4):169-74. doi: 10.1055/s-2000-7456. Neuropediatrics. 2000. PMID: 11071139
Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG).
Heyne K, Henry H, Messerli B, Bachmann C, Stephani U, Tissot JD, Weidinger S. Heyne K, et al. Among authors: stephani u. Eur J Pediatr. 1997 Mar;156(3):247-8. Eur J Pediatr. 1997. PMID: 9083771 No abstract available.
Molybdenum-cofactor deficiency: CT and MR findings.
Schuierer G, Kurlemann G, Bick U, Stephani U. Schuierer G, et al. Among authors: stephani u. Neuropediatrics. 1995 Feb;26(1):51-4. doi: 10.1055/s-2007-979720. Neuropediatrics. 1995. PMID: 7791952
Neuronal networks in west syndrome as revealed by source analysis and renormalized partial directed coherence.
Japaridze N, Muthuraman M, Moeller F, Boor R, Anwar AR, Deuschl G, Stephani U, Raethjen J, Siniatchkin M. Japaridze N, et al. Among authors: stephani u. Brain Topogr. 2013 Jan;26(1):157-70. doi: 10.1007/s10548-012-0245-y. Epub 2012 Aug 4. Brain Topogr. 2013. PMID: 23011408
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M. Hartmann H, et al. Among authors: stephani u. Neuropediatrics. 2007 Jun;38(3):143-7. doi: 10.1055/s-2007-985902. Neuropediatrics. 2007. PMID: 17985264
Cranial computed tomography of 64 children in continuous complete remission of leukemia II: relations to patient data and neurological complications.
Stephani U, Harten G, Langermann HJ, Riehm H, Hanefeld F, Habermalz E, Habermalz HJ. Stephani U, et al. Neuropediatrics. 1983 Aug;14(3):149-54. doi: 10.1055/s-2008-1059568. Neuropediatrics. 1983. PMID: 6194468
Hypothyroidism phenocopy in glycanosis CDG (carbohydrate-deficient glycoprotein syndrome).
Heyne K, Marg W, Walther F, Stephani U, Hermanussen M, Weidinger S. Heyne K, et al. Among authors: stephani u. Eur J Pediatr. 1994 Nov;153(11):866. doi: 10.1007/BF01972905. Eur J Pediatr. 1994. PMID: 7843210 No abstract available.
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.
Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F. Meins M, et al. Among authors: stephani u. Neuropediatrics. 2002 Aug;33(4):194-8. doi: 10.1055/s-2002-34495. Neuropediatrics. 2002. PMID: 12368989
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