Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy von Oláhová, M., Scialo, F., Sriram, A., Alston, C.L., He, L., Kokai, G.K., Morris, A., Sanz, A., Taylor, R.W., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N.

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M09 - Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy von Oláhová, M., Scialo, F., Sriram, A., Alston, C.L., He, L., Kokai, G.K., Morris, A., Sanz, A., Taylor, R.W., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N.

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Ovarian adenocarcinoma in premenarchal girls von Shankar, K.R., Wakhlu, A., Kokai, G.K., McDowell, H., Jones, M.O.

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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans von Buonocore, F, Kuehnen, P, Suntharalingham, J.P, Del Valle, I, Digweed, M, Stachelscheid, H, Khajavi, N, Didi, M, Brady, A.F, Blankenstein, O, Procter, A.M, Dimitri, P, Wales, J.K.H, Ghirri, P, Knoebl, D, Strahm, B, Erlacher, M, Wlodarski, M.W, Chen, W, Kokai, G.K, Anderson, G, Morrogh, D, Moulding, D.A, McKee, S.A, Niemeyer, C.M, Grueters, A, Achermann, J.C

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Capillaria hepatica infestation in a 2-year-old girl von KOKAI, G.K., MISIC, S., PERISIC, V.N., GRUJOVSKA, S.

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