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Items where Author is "Scheffer, IE"
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Number of items: 4.
Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M 
ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020
, 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome'
, American Journal of Human Genetics, vol. 107, no. 5
, pp. 977-988
, doi: https://doi.org/10.1016/j.ajhg.2020.09.005.
ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020
, 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome'
, American Journal of Human Genetics, vol. 107, no. 5
, pp. 977-988
, doi: https://doi.org/10.1016/j.ajhg.2020.09.005.
Shoubridge, C, Jackson, M, Grinton, B, Berkovic, SF, Scheffer, IE, Huskins, S, Thomas, A and Ware, T 2019
, 'Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy'
, American Journal of Medical Genetics, Part A, vol. 179, no. 8
, pp. 1483-1490
, doi: https://doi.org/10.1002/ajmg.a.61216.
Ware, TL, Huskins, SR, Grinton, BE, Liu, YC, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL and Berkovic, SF 2019
, 'Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania'
, Epilepsia Open, vol. 4, no. 3
, pp. 504-510
, doi: https://doi.org/10.1002/epi4.12350.
Ware, TL, Huskins, SR, Grinton, BE, Liu, YC, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL and Berkovic, SF 2019
, 'Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania'
, Epilepsia Open, vol. 4, no. 3
, pp. 504-510
, doi: https://doi.org/10.1002/epi4.12350.