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Stephan Waldmüller
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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