E-LIB Suche - Ergebnisse für: Waldmüller, Stephan

1

Biallelic truncating variants in PACSIN3 cause childhood-on..:

Distelmaier, Felix ; Sezer, Abdullah ; Helm, Christina...
Brain. 147 (2024) 7 - p. e45-e49 , 2024

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

2

Identification of novel genes including NAV2 associated wit..:

Weiss, Birgit ; Ott, Tim ; Vick, Philipp...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, Marieke M ; Maroofian, Reza ; Fukata, Yuko...
Brain. 145 (2022) 7 - p. 2301-2312 , 2022

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

4

A single center experience of prenatal parent‐fetus trio ex..:

Dufke, Andreas ; Hoopmann, Markus ; Waldmüller, Stephan...
Prenatal Diagnosis. 42 (2022) 7 - p. 901-910 , 2022

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

5

Targeted 46-gene and clinical exome sequencing for mutation..:

Waldmüller, Stephan ; Schroeder, Christopher ; Sturm, Marc...
Molecular and Cellular Probes. 29 (2015) 5 - p. 308-314 , 2015

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

6

High-density oligonucleotide-based resequencing assay for m..:

Kathiravel, Ushanthine ; Keyser, Britta ; Hoffjan, Sabine...
Molecular and Cellular Probes. 27 (2013) 2 - p. 103-108 , 2013

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

7

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric D..:

Posch, Maximilian G. ; Waldmuller, Stephan ; Müller, Melanie...
PLoS ONE. 6 (2011) 12 - p. e28872 , 2011

Link: https://doi.org/10.1371/..

8

Novel correlations between the genotype and the phenotype o..:

Waldmüller, Stephan ; Erdmann, Jeanette ; Binner, Priska...
European Journal of Heart Failure. 13 (2011) 11 - p. 1185-1192 , 2011

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

9

A case of familial hypertrophic cardiomyopathy emphasizes t..:

Scheffold, Thomas ; Waldmüller, Stephan ; Borisov, Konstantin
Clinical Research in Cardiology. 100 (2011) 7 - p. 627-628 , 2011

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

10

Array-Based Resequencing Assay for Mutations Causing Hypert..:

Scheffold, Thomas ; Bonin, Michael ; Poths, Sven...
Clinical Chemistry. 54 (2008) 4 - p. 682-687 , 2008

Link: https://doi.org/10.1373/..

11

Noncompaction of the Ventricular Myocardium Is Associated w..:

Budde, Birgit S. ; Binner, Priska ; Waldmüller, Stephan...
PLoS ONE. 2 (2007) 12 - p. e1362 , 2007

Link: https://doi.org/10.1371/..

12

DNA-chips for genetic testing of hypertrophic cardiomyopath:

Waldmüller, Stephan ; Freund, Petra ; Mauch, Simon..
Journal of Molecular and Cellular Cardiology. 33 (2001) 6 - p. A127 , 2001

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

13

Novel mutations in MYH7 and MYBPC3 of an Indian family caus..:

Sakthievel, Sadayappan ; Waldmüller, Stephan ; Saadi, A....
Journal of Molecular and Cellular Cardiology. 33 (2001) 6 - p. A105 , 2001

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

14

Identification of novel genes including NAV2 associated wit..:

Weiss, Birgit ; Ott, Tim ; Vick, Philipp...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752378/. , 2023

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

15

Bi-allelic loss-of-function variants in KIF21A cause severe..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811090/. , 2023

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