학술논문
'학술논문'
에서 검색결과 33건 | 목록
1~10
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, June 2024, 194(6))
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Academic Journal
Samra, S.; Sharma, M.; Vaseghi-Shanjani, M.; Del Bel, K.L.; Byres, L.; Lin, S.; Dalmann, J.; Salman, A.; Modi, B.P.; Biggs, C.M.; Boelman, C.; Clarke, L.A.; Turvey, S.E.; Mwenifumbo, J.; Lehman, A.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 11 January 2024, 5(1))
Academic Journal
Hebbar, M.; Al-Taweel, N.; Gill, I.; Boelman, C.; Lee, J.; Michoulas, A.; Huh, L.L.; Connolly, M.B.; Demos, M.K.; Dean, R.A.; Goodchild, S.J.; Mezeyova, J.; Shuart, N.G.; Johnson, J.P.; Armstrong, L.
In: BMC Neurology . (BMC Neurology, December 2024, 24(1))
Academic Journal
Cousin, M.A.; Klee, E.W.; Gavrilova, R.H.; Kruisselbrink, T.M.; Vairo, F.; Babovic-Vuksanovic, D.; Veale, E.L.; Holden, R.G.; Mathie, A.; Dsouza, N.R.; Tripathi, S.; Urrutia, R.; Zimmermann, M.T.; Arelin, M.; Beek, G.; Bhambhani, V.; Bekheirnia, M.R.; Leduc, M.S.; Lewis, A.M.; Machol, K.; Scaglia, F.; Beygo, J.; Ketteler, P.; Kuechler, A.; Bialer, M.; McLaughlin, J.; Bigoni, S.; Ferlini, A.; Ognibene, D.; Boelman, C.; Carmichael, J.; Taylor, J.; Courtin, T.; Cogne, B.; Latypova, X.; Nizon, M.; Dabaj, I.; Doummar, D.; Fazilleau, L.; Trentesaux, A.-S.; Runke, C.K.; Graham, J.M.; Haack, T.B.; Park, J.; Juusola, J.; McWalter, K.; Guillen Sacoto, M.J.; Willaert, R.; Kant, S.G.; Koopmann, T.T.; Kayani, S.; Keren, B.; Mignot, C.; Nava, C.; Klöckner, C.; Neuser, S.; Platzer, K.; Radtke, M.; Lambert, L.; Lebel, R.R.; Leonardi, E.; Murgia, A.; Liew, W.; Tan, E.S.; Mardini, S.; Narayanan, V.; Ramsey, K.; Poirsier, C.; Shinawi, M.; Spranger, S.; Zadeh, N.
In: Genome Medicine . (Genome Medicine, December 2022, 14(1))
Academic Journal
Elliott, A.M.; Adam, S.; du Souich, C.; Lehman, A.; Alderman, E.; Armstrong, L.; Aubertin, G.; Blood, K.; Boerkoel, C.; Chijiwa, C.; Clarke, L.; Couse, M.; Creighton, S.; Watts-Dickens, A.; Gibson, W.T.; Gill, H.; Hamilton, S.; Heran, H.; Hulait, G.K.; Koehn, D.; Lee, H.K.; Lewis, S.; Lopez, E.; Louie, K.; Niederhoffer, K.; Meagher, K.; Patel, M.S.; Rupps, R.; Seath, K.; Steinraths, M.; Tang, K.; van Allen, M.; Wasserman, W.; Friedman, J.M.; Boelman, C.; Tarailo-Graovac, M.; Horvath, G.; Peng, J.J.; Richmond, P.; Salvarinova, R.; Selby, K.; Stockler, S.; Mwenifumbo, J.; Nelson, T.N.; Bretherick, K.; Brown, L.; Huang, L.; Matthews, A.; Tyson, C.; van Karnebeek, C.; Race, S.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 14 July 2022, 3(3))
Academic Journal
In: Journal of Child Neurology . (Journal of Child Neurology, May 2022, 37(6):524-533)
Academic Journal
Spring, A.M.; Aghakhani, Y.; Wiebe, S.; Appendino, J.P.; Pillay, N.; Scantlebury, M.; Josephson, C.B.; Singh, S.; Bello-Espinosa, L.; Federico, P.; Pittman, D.J.; Rizwan, A.; Jirsch, J.; Steve, T.; Gross, D.; Connolly, M.; Datta, A.; Boelman, C.; Huh, L.; Javidan, M.; Hrazdil, C.; Jetté, N.
In: Frontiers in Neurology . (Frontiers in Neurology, 14 February 2022, 13)
Academic Journal
Gladkikh, M.; McMillan, H.J.; Pohl, D.; Andrade, A.; Boelman, C.; Bhathal, I.; Moharir, M.; Mailo, J.; Mineyko, A.; Perreault, S.; Smith, J.
In: Canadian Journal of Neurological Sciences . (Canadian Journal of Neurological Sciences, 11 November 2021, 48(6):831-838)
Academic Journal
In: Canadian Journal of Neurological Sciences . (Canadian Journal of Neurological Sciences, July 2021, 48(4):575-577)
Academic Journal
In: Genes . (Genes, December 2023, 14(12))
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제한된 항목
[AR] Boelman, C.
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