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PubPharm (40)
31
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
enthalten in:
Human genetics
| 2020
von
Ganapathi, M.
|
Argyriou, L.
|
Martínez-Azorín, F.
| +21
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32
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
enthalten in:
Human genetics
| 2020
von
Ganapathi, M.
|
Argyriou, L.
|
Martínez-Azorín, F.
| +21
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33
Impact of patient education videos on genetic counseling outcomes after exome sequencing
enthalten in:
Patient education and counseling
| 2020
von
Hernan, R.
|
Cho, M.
|
Wilson, A.
| +22
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34
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
enthalten in:
Journal of genetic counseling
| 2018
von
Wynn, J.
|
Holland, D.
|
Duong, J.
| +2
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35
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
enthalten in:
Journal of genetic counseling
| 2017
von
Wynn, J.
|
Holland, D.
|
Duong, J.
| +2
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36
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
enthalten in:
Journal of genetic counseling
| 2017
von
Wynn, J.
|
Holland, D.
|
Duong, J.
| +2
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37
Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies
enthalten in:
Journal of genetic counseling
| 2017
von
Wynn, J.
|
Holland, D.
|
Duong, J.
| +2
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38
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
enthalten in:
Nature genetics
| 2017
von
Lu, H.
|
Tan, Q.
|
Rousseaux, M.
| +34
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39
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
enthalten in:
Nature genetics
| 2017
von
Lu, H.
|
Tan, Q.
|
Rousseaux, M.
| +34
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40
De novo mutations in PURA are associated with hypotonia and developmental delay
enthalten in:
Cold Spring Harbor molecular case studies
| 2015
von
Tanaka, A.
|
Bai, R.
|
Cho, M.
| +11
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