학술논문
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Academic Journal
Morales-Rosado, J.A.; Schwab, T.L.; Macklin-Mantia, S.K.; Pinto e Vairo, F.; Klee, E.W.; Boyum, G.E.; Cong, A.T.Q.; Schellenberg, M.J.; Clark, K.J.; Wierenga, K.J.; Foley, A.R.; Donkervoort, S.; Hu, Y.; Saade, D.; Bharucha-Goebel, D.; Grunseich, C.; Bönnemann, C.G.; Pehlivan, D.; Rosenfeld, J.A.; Lupski, J.R.; Lee, B.; Lotze, T.E.; Mohila, C.A.; Chao, K.R.; Pais, L.; Bruels, C.C.; Littel, H.R.; Kang, P.B.; Estrella, E.A.; Zimmermann, M.T.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 June 2023, 110(6):989-997)
Academic Journal
In: Journal of Genetic Counseling . (Journal of Genetic Counseling, June 2023, 32(3):598-606)
Academic Journal
Macke, E.L.; Morales-Rosado, J.A.; Schmitz, C.T.; Klee, E.W.; Macklin-Mantia, S.K.; Oskarsson, B.; Wierenga, K.J.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, July 2022, 10(7))
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
MacKlin-Mantia, S.K.; Riegert-Johnson, D.L.; Hines, S.L.; Chaichana, K.L.; Donaldson, A.M.; Ko, S.L.; Zhai, Q.; Samadder, N.J.
In: BMC Medical Genetics . (BMC Medical Genetics, 17 August 2020, 21(1))
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))
Academic Journal
In: Hereditary Cancer in Clinical Practice . (Hereditary Cancer in Clinical Practice, 10 August 2020, 18(1))
Academic Journal
In: Hereditary Cancer in Clinical Practice . (Hereditary Cancer in Clinical Practice, 30 July 2020, 18(1))
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[AR] Macklin-Mantia, S.K.
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