Treurniet, S, Bevers, M S A M, Wyers, C E, Micha, D, Teunissen, B P, Elting, M W, van den Bergh, J P & Eekhoff, E M W 2023, ' Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures ', Calcified Tissue International, vol. 112, no. 5, pp. 621-627 . https://doi.org/10.1007/s00223-023-01066-3 Calcified Tissue International. Springer New York Calcified Tissue International, 112(5), 621-627. Springer, Cham Calcified Tissue International, 112(5), 621-627. Springer New York
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143 Scientia American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc. Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004 American Journal of Medical Genetics. Part A, 191, 135-143
Genetics in Medicine Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2 Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins Genetics in Medicine, 23, 2122-2137 Genetics in Medicine, 23, 11, pp. 2122-2137 Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2
Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc. Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY Human mutation, 43(11), 1609-1628. Wiley-Liss Inc. Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
Claeys, L, Storoni, S, Eekhoff, M, Elting, M, Wisse, L, Pals, G, Bravenboer, N, Maugeri, A & Micha, D 2021, ' Collagen transport and related pathways in Osteogenesis Imperfecta ', Human Genetics, vol. 140, no. 8, pp. 1121-1141 . https://doi.org/10.1007/s00439-021-02302-2 Human Genetics
Frontiers in Medicine, Vol 8 (2021) Frontiers in medicine, 8:737936. Frontiers Media S.A. Frontiers in Medicine, 8:737936. Frontiers Media S.A. Stuurman, K E, van der Mespel-Brouwer, M H, Engels, M A J, Elting, M W, Bhola, S L & Meijers-Heijboer, H 2021, ' Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan : Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy ', Frontiers in medicine, vol. 8, 737936 . https://doi.org/10.3389/fmed.2021.737936, https://doi.org/10.3389/fmed.2021.737936 Frontiers in Medicine