Eggermann K - Search Results

1

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: eggermann k. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958

2

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T. Albrecht B, et al. Among authors: eggermann k, eggermann t. J Med Genet. 2001 Mar;38(3):214. doi: 10.1136/jmg.38.3.214. J Med Genet. 2001. PMID: 11303520 Free PMC article. No abstract available.

3

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S. Eggermann T, et al. Among authors: eggermann k. Ann Genet. 2001 Jan-Mar;44(1):41-5. doi: 10.1016/s0003-3995(01)01035-8. Ann Genet. 2001. PMID: 11334617 Review.

4

Uniparental disomy: clinical indications for testing in growth retardation.

Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. Eur J Pediatr. 2002 Jun;161(6):305-12. doi: 10.1007/s00431-002-0916-x. Epub 2002 Apr 26. Eur J Pediatr. 2002. PMID: 12029448 Review.

5

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

Schmidt C, Albers A, Tomiuk J, Eggermann K, Wagner C, Capasso G, Lahme S, Hesse A, Lang F, Zerres K, Eggermann T. Schmidt C, et al. Among authors: eggermann k, eggermann t. Clin Nephrol. 2002 May;57(5):342-8. doi: 10.5414/cnp57342. Clin Nephrol. 2002. PMID: 12036192

6

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter.

Eggermann T, Meschede D, Schüler H, Palm S, Gläser D, Horsthemke B, Eggermann K, Haverkamp F, Zerres K. Eggermann T, et al. Among authors: eggermann k. Clin Genet. 2005 May;67(5):434-7. doi: 10.1111/j.1399-0004.2005.00427.x. Clin Genet. 2005. PMID: 15811012 No abstract available.

7

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Roos A, et al. Among authors: eggermann k, eggermann t. Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. doi: 10.1016/j.ejmg.2006.06.002. Epub 2006 Aug 4. Eur J Med Genet. 2006. PMID: 16905374

8

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S. Eggermann T, et al. Among authors: eggermann k. Neuromuscul Disord. 2008 Feb;18(2):146-9. doi: 10.1016/j.nmd.2007.10.003. Epub 2007 Dec 21. Neuromuscul Disord. 2008. PMID: 18155522

9

Congenital heart disease is a feature of severe infantile spinal muscular atrophy.

Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: eggermann k, eggermann t. J Med Genet. 2008 Oct;45(10):635-8. doi: 10.1136/jmg.2008.057950. Epub 2008 Jul 28. J Med Genet. 2008. PMID: 18662980

10

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.

Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R. Rudnik-Schöneborn S, et al. Among authors: eggermann k, eggermann t. Clin Genet. 2009 Aug;76(2):168-78. doi: 10.1111/j.1399-0004.2009.01200.x. Clin Genet. 2009. PMID: 19780763

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