E-LIB Suche - Ergebnisse für: Spengler, Sabrina

1

Congenital Imprinting Disorders: A Novel Mechanism Linking ..:

Eggermann, Thomas ; Elbracht, Miriam ; Schröder, Carmen...
The Journal of Pediatrics. 163 (2013) 4 - p. 1202-1207 , 2013

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

2

Multi-exon deletion in the XDH gene as a cause of classical..:

Eggermann, Thomas ; Spengler, Sabrina ; Denecke, Bernd..
Clinical Nephrology. 79 (2013) 1 - p. 78-80 , 2013

Link: https://doi.org/10.5414/..

3

Patient with three euchromatic supernumerary marker chromos..:

Schwanitz, Gesa ; Hagh, Javad Karim Zad ; Rad, Isa Abdi...
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 736-740 , 2013

Link: https://doi.org/10.1002/..

4

SIL1 mutations and clinical spectrum in patients with Marin..:

Krieger, Michael ; Roos, Andreas ; Stendel, Claudia...
Brain. 136 (2013) 12 - p. 3634-3644 , 2013

Link: https://doi.org/10.1093/..

5

Molekulargenetische Diagnostik von Imprinting-Erkrankungen:

Eggermann, Thomas ; Soellner, Lukas ; Bens, Susanne...
BIOspektrum. 19 (2013) 7 - p. 753-758 , 2013

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

6

Segmental maternal uniparental disomy 7q associated with DL..:

Begemann, Matthias ; Spengler, Sabrina ; Kordaß, Ulrike..
American Journal of Medical Genetics Part A. 158A (2012) 2 - p. 423-428 , 2012

Link: https://doi.org/10.1002/..

7

Primary pulmonary hypertension, congenital heart defect, ce..:

Reutter, Heiko ; Bagci, Soyhan ; Müller, Andreas...
European Journal of Medical Genetics. 55 (2012) 1 - p. 27-31 , 2012

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

8

Heterogeneous growth patterns in carriers of chromosome 7p1..:

Eggermann, Thomas ; Begemann, Matthias ; Gogiel, Magdalena...
American Journal of Medical Genetics Part A. 158A (2012) 11 - p. 2815-2819 , 2012

Link: https://doi.org/10.1002/..

9

2p21 Deletions in hypotonia–cystinuria syndrome:

Eggermann, Thomas ; Spengler, Sabrina ; Venghaus, Andreas...
European Journal of Medical Genetics. 55 (2012) 10 - p. 561-563 , 2012

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

10

Use of multilocus methylation-specific single nucleotide pr..:

Begemann, Matthias ; Leisten, Isabelle ; Soellner, Lukas...
Epigenetics. 7 (2012) 5 - p. 473-481 , 2012

Link: https://doi.org/10.4161/..

11

Molecular Karyotyping as a Relevant Diagnostic Tool in Chil..:

Spengler, Sabrina ; Begemann, Matthias ; Ortiz Brüchle, Nadina...
The Journal of Pediatrics. 161 (2012) 5 - p. 933-942.e1 , 2012

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

12

Mosaic tetrasomy 14pterq13.1: Longitudinal study:

Schwanitz, Gesa ; Korsch, Eckhard ; Kremens-Korsch, Ursula...
European Journal of Medical Genetics. 54 (2011) 4 - p. e465-e467 , 2011

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

13

MBD3 mutations are not responsible for ICR1 hypomethylation..:

Bachmann, Nadine ; Spengler, Sabrina ; Binder, Gerhard.
European Journal of Medical Genetics. 53 (2010) 1 - p. 23-24 , 2010

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

14

Chromosome 11p15 duplication in Silver‐Russell syndrome due..:

Eggermann, Thomas ; Spengler, Sabrina ; Bachmann, Nadine...
American Journal of Medical Genetics Part A. 152A (2010) 6 - p. 1484-1487 , 2010

Link: https://doi.org/10.1002/..

15

Identification of a 21q22 duplication in a Silver–Russell s..:

Eggermann, Thomas ; Schönherr, Nadine ; Spengler, Sabrina...
American Journal of Medical Genetics Part A. 152A (2010) 2 - p. 356-359 , 2010

Link: https://doi.org/10.1002/..