Search Results - Batzir, N. Assia

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    84P A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent

    84P A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent by Aharoni, S., Batzir, N. Assia, Orenstein, N., Yaron, Y., Kuzminsky, A., Nevo, Y., Konen, O., Bazak, L., Lidzbarsky, G., Basel-Salmon, L.

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  2. 2
    De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

    De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures by Assia Batzir, Nurit, Bhagwat, Pranjali K, Eble, Tanya N, Liu, Pengfei, Eng, Christine M, Elsea, Sarah H, Robak, Laurie A, Scaglia, Fernando, Goldman, Alica M, Dhar, Shweta U, Wangler, Michael F

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