학술논문
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Academic Journal
Klee, E.W.; Cousin, M.A.; Morales-Rosado, J.A.; Macke, E.L.; Jenkinson, W.G.; Ferrer, A.; Schultz-Rogers, L.E.; Olson, R.J.; Oliver, G.R.; Pinto e Vairo, F.; Sigafoos, A.N.; Schwab, T.L.; Gupta, A.; Blackburn, P.R.; Boczek, N.J.; Prochnow, C.A.; Lowy, R.J.; Mulvihill, L.A.; McAllister, T.M.; Aoudia, S.L.; Kruisselbrink, T.M.; Kemppainen, J.L.; Summer Bolster, J.M.; Beck, S.A.; Ferber, M.J.; Clark, K.J.; Pichurin, P.N.; Deyle, D.R.; Morava-Kozicz, E.; Gavrilova, R.H.; Lanpher, B.C.; Babovic-Vuksanovic, D.; Farrugia, G.; Schimmenti, L.A.; Lazaridis, K.N.; Gunderson, L.B.; Fisher, L.J.; Tarnowski, J.M.; Kroc, S.A.; Bertsch, N.L.; Agre, K.E.; Murphree, M.I.; Rust, L.M.; Niu, Z.; Zimmermann, M.T.; Urrutia, R.A.; Kaiwar, C.; Dhamija, R.; Ellingson, M.S.; Barnett, S.S.; Rasmussen, K.J.; Lahner, C.A.; Hasadsri, L.; Marcou, C.A.; Hager, M.M.; Jackson, J.L.; Macklin-Mantia, S.K.; Atwal, P.S.; Wierenga, K.J.; Stewart, A.K.
In: Genetics in Medicine . (Genetics in Medicine, March 2021, 23(3):498-507)
Academic Journal
Blackburn, P.R.; Schultz, M.J.; Lahner, C.A.; Hasadsri, L.; Li, D.; Bhoj, E.; Fisher, L.J.; Lanpher, B.C.; Renaud, D.L.; Kenney, A.; Schrier Vergano, S.A.; Ibrahim, N.; Hashem, M.; Alkuraya, F.S.; Zain Seidahmed, M.
In: Annals of Clinical and Translational Neurology . (Annals of Clinical and Translational Neurology, 1 June 2020, 7(6):1013-1028)
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)
Academic Journal
Boczek, N.J.; Lahner, C.A.; Nguyen, T.-M.; Ferber, M.J.; Hasadsri, L.; Thorland, E.C.; Niu, Z.; Gavrilova, R.H.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, December 2018, 176(12):2798-2802)
Academic Journal
Klee, E.W.; Cousin, M.A.; Pinto e Vairo, F.; Morales-Rosado, J.A.; Macke, E.L.; Jenkinson, W.G.; Ferrer, A.; Schultz-Rogers, L.E.; Olson, R.J.; Oliver, G.R.; Sigafoos, A.N.; Schwab, T.L.; Zimmermann, M.T.; Urrutia, R.A.; Kaiwar, C.; Gupta, A.; Blackburn, P.R.; Boczek, N.J.; Prochnow, C.A.; Lowy, R.J.; Mulvihill, L.A.; McAllister, T.M.; Aoudia, S.L.; Kruisselbrink, T.M.; Gunderson, L.B.; Kemppainen, J.L.; Fisher, L.J.; Tarnowski, J.M.; Hager, M.M.; Kroc, S.A.; Bertsch, N.L.; Agre, K.E.; Jackson, J.L.; Macklin-Mantia, S.K.; Murphree, M.I.; Rust, L.M.; Summer Bolster, J.M.; Beck, S.A.; Atwal, P.S.; Ellingson, M.S.; Barnett, S.S.; Rasmussen, K.J.; Lahner, C.A.; Niu, Z.; Hasadsri, L.; Ferber, M.J.; Marcou, C.A.; Clark, K.J.; Pichurin, P.N.; Deyle, D.R.; Morava-Kozicz, E.; Gavrilova, R.H.; Dhamija, R.; Wierenga, K.J.; Lanpher, B.C.; Babovic-Vuksanovic, D.; Farrugia, G.; Schimmenti, L.A.; Stewart, A.K.; Lazaridis, K.N.
In: Genetics in Medicine . (Genetics in Medicine, February 2023, 25(2))
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[AR] Lahner, C.A.
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