Search Results - "Puusepp, S."

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene by Mauring, L, Puusepp, S, Parik, M, Roomets, E, Teek, R, Reimand, T, Pajusalu, S, Kaljurand, K, Õunap, K

“…Recently, Stenton et al. (2021) described a new, autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by missense…”
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EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs by Puusepp, S., Reinson, K., Pajusalu, S., Oiglane-Shlik, E., Ilves, P., Wojcik, M., Ounap, K.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES by Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C., Bönnemann, C., Chao, K., Coppens, S., Donkervoort, S., Goodrich, J., Kang, P., Mohassel, P., Pais, L., Siddique, T., Vargas-Franco, D., Wojcik, M., Stenzel, W., Ounap, K.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.333 Progressive proximal muscle weakness, myopathic muscle biopsy and a novel candidate gene by Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C., Bönnemann, C., Chao, K., Coppens, S., Donkervoort, S., Goodrich, J., Kang, P., Mohassel, P., Pais, L., Siddique, T., Vargas-Franco, D., Wojcik, M., Stenzel, W., Ounap, K.

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