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Stephan Waldmüller
50
results:
Search for persons
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Format
Online (50)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (33)
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?
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
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/..
?
4
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/..
?
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
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/..
?
8
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/..
?
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
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/..
?
13
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/..
?
14
Image_2_Identification of novel genes including NAV2 associ..:
Birgit Weiss
;
Tim Ott
;
Philipp Vick
...
doi:10.3389/fendo.2023.1258313.s003. , 2023
Link:
https://doi.org/10.3389/..
?
15
Image_1_Identification of novel genes including NAV2 associ..:
Birgit Weiss
;
Tim Ott
;
Philipp Vick
...
doi:10.3389/fendo.2023.1258313.s002. , 2023
Link:
https://doi.org/10.3389/..
1-15