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Sanna Puusepp
Sanna Puusepp
Tartu University Hospital
Genetics
Biology
MYH7
Exon
Myopathy
3
Papers
62
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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
2016
Neuromuscular Disorders
Sander Pajusalu
Inga Talvik
Klari Noormets
Tiina Talvik
Haide Põder
Kairit Joost
Sanna Puusepp
Andres Piirsoo
Werner Stenzel
Hans H. Goebel
Tiit Nikopensius
Tarmo Annilo
Margit Nõukas
Andres Metspalu
Katrin Õunap
Tiia Reimand
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Citations (6)
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R
2016
European Journal of Medical Genetics
Melanie Leffler
Sanna Puusepp
Olga Zilina
Ying Zhu
Kati Kuuse
Nicole Bain
Trent Burgess
Katrin Õunap
Michael Field
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Citations (8)
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
2016
American Journal of Medical Genetics Part A
Karit Reinson
Eve Õiglane-Shlik
Inga Talvik
Ulvi Vaher
Anne Õunapuu
Margus Ennok
Rita Teek
Sander Pajusalu
Ülle Murumets
Tiiu Tomberg
Sanna Puusepp
Andres Piirsoo
Tiia Reimand
Katrin Õunap
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Citations (48)
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