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X
Kovak, Karen
5  Ergebnisse:
Personensuche X
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1

Missense variant in RBM10 associated with mild and non‐leth..:

Potter, Amiee B. ; O'Brien, Timothy D. ; Kulkarni, Arpita...
Clinical Genetics.  104 (2023)  2 - p. 269-271 , 2023
Link: https://doi.org/10.1111/..
 
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2

P538: Missense variants and a mild non-lethal form of TARP?:

Potter, Amiee ; O'Brien, Timothy ; Kulkarni, Arpita...
Genetics in Medicine Open.  1 (2023)  1 - p. 100585 , 2023
Link: https://doi.org/10.1016/..
 
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3

Aligning Policy to Promote Cascade Genetic Screening for Pr..:

George, Rani ; Kovak, Karen ; Cox, Summer L.
Journal of Genetic Counseling.  24 (2015)  3 - p. 388-399 , 2015
Link: https://doi.org/10.1007/..
 
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4

Clinical and genetic characterization of manifesting carrie..:

Soltanzadeh, Payam ; Friez, Michael J. ; Dunn, Diane...
Neuromuscular Disorders.  20 (2010)  8 - p. 499-504 , 2010
Link: https://doi.org/10.1016/..
 
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5

P538: Missense variants and a mild non-lethal form of TARP?:

Amiee Potter ; Timothy O'Brien ; Arpita Kulkarni...
http://www.sciencedirect.com/science/article/pii/S294977442300585X.  , 2023
Link: https://doi.org/10.1016/..
 
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