Prenatal diagnosis of spinal muscular atrophy in Russia von Shagina, I., Dadali, H. L., Sitnikov, V. P., Pugachev, V. V., Malygina, N. A., Evgrafov, O. V.

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Prenatal diagnosis of spinal muscular atrophu in Russia von SHAGINA, I, DADALI, H. L, SITNIKOV, V. P, PUGACHEV, V. V, MALYGINA, N. A, EVGRAFOV, O. V

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy von Evgrafov, Oleg V, Mersiyanova, Irena, Irobi, Joy, Van Den Bosch, Ludo, Dierick, Ines, Leung, Conrad L, Schagina, Olga, Verpoorten, Nathalie, Van Impe, Katrien, Fedotov, Valeriy, Dadali, Elena, Auer-Grumbach, Michaela, Windpassinger, Christian, Wagner, Klaus, Mitrovic, Zoran, Hilton-Jones, David, Talbot, Kevin, Martin, Jean-Jacques, Vasserman, Natalia, Tverskaya, Svetlana, Polyakov, Alexander, Liem, Ronald K H, Gettemans, Jan, Robberecht, Wim, De Jonghe, Peter, Timmerman, Vincent

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Teriparatide Therapy and Beta-Tricalcium Phosphate Enhance Scaffold Reconstruction of Mouse Femoral Defects von Jacobson, Justin A., Yanoso-Scholl, Laura, Reynolds, David G., Dadali, Tulin, Bradica, Gino, Bukata, Susan, Puzas, Edward J., Zuscik, Michael J., Rosier, Randy, O'Keefe, Regis J., Schwarz, Edward M., Awad, Hani A.

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features von Scala, M, Chua, GL, Chin, CF, Alsaif, HS, Borovikov, A, Riazuddin, S, Manzini, MC, Severino, M, Kuk, A, Fan, H, Jamshidi, Y, Toosi, MB, Doosti, M, Karimiani, EG, Salpietro, V, Dadali, E, Baydakova, G, Konovalov, F, Lozier, E, O'Connor, E, Sabr, Y, Alfaifi, A, Ashrafzadeh, F, Striano, P, Zara, F, Alkuraya, FS, Houlden, H, Maroofian, R, Silver, DL

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VARIATION, DATABASES, and DISEASE: New directions for Human Mutation von Paalman, Mark H., Cotton, Richard G.H., Kazazian Jr, Haig H.

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