E-LIB Suche - Ergebnisse für: Eggermann, K.

1

Phenotype spectrum of idiopathic small fiber neuropathies –..:

Van Den Braak, N. ; Dumke, C. ; Broschwitz, R....
Clinical Neurophysiology. 159 (2024) - p. e11 , 2024

Link: https://doi.org/10.1016/..

2

Clonal Elimination of the Pathogenic Allele as Diagnostic P..:

Eggermann, K. ; Meyer, R. ; Begemann, M....
Genes. 13 (2022) 12 - p. 2356 , 2022

Link: https://doi.org/10.3390/..

3

Recurrent abdominal pain in hereditary sensory autonomic ne..:

Alkaissi, H. ; Al-Sibahee, E. ; Baher, H....
Revue Neurologique. 177 (2021) 10 - p. 1307-1309 , 2021

Link: https://doi.org/10.1016/..

4

P40 Autosomal dominant centronuclear myopathy caused by a h..:

Dyong, T. ; Eggermann, K. ; Kurth, I....
Clinical Neurophysiology. 131 (2020) 4 - p. e199 , 2020

Link: https://doi.org/10.1016/..

5

NSD1 duplication in Silver–Russell syndrome (SRS): molecula..:

Sachwitz, J. ; Meyer, R. ; Fekete, G....
Clinical Genetics. 91 (2016) 1 - p. 73-78 , 2016

Link: https://doi.org/10.1111/..

6

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: ..:

Rudnik‐Schöneborn, S. ; Tölle, D. ; Senderek, J....
Clinical Genetics. 89 (2015) 1 - p. 34-43 , 2015

Link: https://doi.org/10.1111/..

7

Einsatz der molekularen Karyotypisierung in der Pädiatrie: ..:

Spengler, S. ; Begemann, M. ; Eggermann, K....
Monatsschrift Kinderheilkunde. 161 (2013) 7 - p. 633-643 , 2013

Link: https://doi.org/10.1007/..

8

Genotype–phenotype studies in infantile spinal muscular atr..:

Rudnik‐Schöneborn, S ; Berg, C ; Zerres, K...
Clinical Genetics. 76 (2009) 2 - p. 168-178 , 2009

Link: https://doi.org/10.1111/..

9

Use of multiplex ligation-dependent probe amplification inc..:

Eggermann, T ; Schönherr, N ; Eggermann, K...
Clinical Genetics. 73 (2007) 1 - p. 79-84 , 2007

Link: https://doi.org/10.1111/..

10

(Epi)mutations in 11p15 significantly contribute to Silver–..:

Schönherr, N. ; Meyer, E. ; Eggermann, K....
European Journal of Medical Genetics. 49 (2006) 5 - p. 414-418 , 2006

Link: https://doi.org/10.1016/..

11

Submicroscopic unbalanced translocation resulting in del10p..:

Roos, A. ; Rudnik-Schöneborn, S. ; Eggermann, K....
European Journal of Medical Genetics. 49 (2006) 6 - p. 505-510 , 2006

Link: https://doi.org/10.1016/..

12

Supernumerary marker chromosomes derived from chromosome 15..:

Eggermann, K ; Mau, UA ; Bujdosó, G...
Clinical Genetics. 62 (2002) 1 - p. 89-93 , 2002

Link: https://doi.org/10.1034/..

13

IRS1 and GRB2 as members of the IGF signal transduction pat..:

Eggermann, T ; Kloos, P ; Mergenthaler, S...
Clinical Genetics. 59 (2001) 5 - p. 371-373 , 2001

Link: https://doi.org/10.1034/..

14

Segmental uniparental disomy of 7q31‐qter is rare in Silver..:

Eggermann, T ; Mergenthaler, S ; Eggermann, K..
Clinical Genetics. 60 (2001) 5 - p. 395-396 , 2001

Link: https://doi.org/10.1034/..

15

Clonal Elimination of the Pathogenic Allele as Diagnostic P..:

Eggermann, K ; Meyer, R ; Begemann, M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778166/. , 2022

Link: http://www.ncbi.nlm.nih...