학술논문
'학술논문'
에서 검색결과 15건 | 목록
1~10
Academic Journal
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, September 2022, 32)
Academic Journal
Calame, D.G.; Herman, I.; Emrick, L.T.; Pehlivan, D.; Fatih, J.M.; Mitani, T.; Du, H.; Grochowski, C.M.; Gijavanekar, C.; Sutton, V.R.; Coban-Akdemir, Z.; Posey, J.E.; Elsea, S.H.; Marafi, D.; Lupski, J.R.; Hunter, J.V.; Maroofian, R.; Rocca, C.; Houlden, H.; Marshall, A.E.; Ito, Y.A.; Boycott, K.M.; Osmond, M.; Kernohan, K.D.; Donis, K.C.; Silva, T.O.; Morales Saute, J.A.; Sousa, S.B.; Bakhtiari, S.; Kruer, M.C.; Lossos, A.; Fellig, Y.; Prus, E.; Kalish, Y.; Meiner, V.; Suerink, M.; Ruivenkamp, C.; Muirhead, K.; Vanderver, A.; Saadi, N.W.; Zaki, M.S.; Bouman, A.; Barakat, T.S.; Skidmore, D.L.; Murphy, D.; Karimiani, E.G.; Jamshidi, Y.; Jaddoa, A.G.; Tajsharghi, H.; Jin, S.C.; Abbaszadegan, M.R.; Ebrahimzadeh-Vesal, R.; Hosseini, S.; Alavi, S.; Bahreini, A.; Zarean, E.; Salehi, M.M.; Al-Sannaa, N.A.; Zifarelli, G.; Bauer, P.; Robson, S.C.; Travaglini, L.; Nicita, F.; Jhangiani, S.N.; Gibbs, R.A.
In: Annals of Neurology . (Annals of Neurology, August 2022, 92(2):304-321)
Academic Journal
In: A & A case reports . (A & A case reports, 15 October 2017, 9(8):244-247)
Academic Journal
Boycott, K.; Hartley, T.; Geraghty, M.T.; Richer, J.; Armour, C.M.; Adam, S.; Friedman, J.M.; van Karnebeek, C.; Bernier, F.; Lauzon, J.; Chong, K.; Mendoza-Londono, R.; Meyn, M.S.; Fernandez, B.A.; Hume, S.; Taylor, S.; Knoppers, B.M.; Zawati, M.H.; Laberge, A.-M.; Michaud, J.L.; Majewski, J.; Nelson, T.N.; Sadikovic, B.; Skidmore, D.L.; Stockley, T.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2015, 52(7):431-437)
Academic Journal
In: Pediatric Neurology . (Pediatric Neurology, August 2014, 51(2):284-285)
Academic Journal
de Munnik, S.A.; Schoots, J.; Hoefsloot, L.H.; Brunner, H.G.; Bongers, E.M.; Otten, B.J.; Bicknell, L.S.; Jackson, A.P.; Aftimos, S.; Al-Aama, J.Y.; Edrees, A.Y.; van Bever, Y.; Bober, M.B.; Borm, G.F.; Clayton-Smith, J.; Deal, C.L.; Samuels, M.E.; Feingold, M.; Fryer, A.; van Hagen, J.M.; Hennekam, R.C.; Jansweijer, M.C.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.T.; Sluiter, A.E.; Temple, I.K.; Terhal, P.A.; Knoers, N.V.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, November 2012, 158 A(11):2733-2742)
Academic Journal
De Munnik, S.A.; Schoots, J.; Hoefsloot, L.H.; Brunner, H.G.; Bongers, E.M.H.F.; Bicknell, L.S.; Jackson, A.P.; Aftimos, S.; Al-Aama, J.Y.; Edrees, A.Y.; Van Bever, Y.; Bober, M.B.; Clayton-Smith, J.; Feingold, M.; Fryer, A.; Van Hagen, J.M.; Hennekam, R.C.; Jansweijer, M.C.E.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.T.R.M.; Temple, I.K.; Terhal, P.A.; Knoers, N.V.A.M.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.; Samuels, M.E.
In: European Journal of Human Genetics . (European Journal of Human Genetics, June 2012, 20(6):598-606)
Academic Journal
Skidmore, D.L.; Chitayat, D.; Morgan, T.; Robertson, S.P.; Hinek, A.; Fischer, B.; Dimopoulou, A.; Kornak, U.; Somers, G.; Halliday, W.; Blaser, S.; Diambomba, Y.; Lemire, E.G.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, August 2011, 155(8):1848-1856)
Academic Journal
Guernsey, D.L.; Matsuoka, M.; Jiang, H.; Evans, S.; Nightingale, M.; Perry, S.; Samuels, M.E.; MacGillivray, C.; Orr, A.; Ferguson, M.; Rideout, A.L.; Thomas, A.; Parkash, S.; Ludman, M.; Skidmore, D.L.; Leblanc, M.; McMaster, C.R.; Paquette, J.; Patry, L.; Michaud, J.L.; Deal, C.; Langlois, S.; Superneau, D.W.
In: Nature Genetics . (Nature Genetics, February 2011, 43(4):360-365)
Academic Journal
Guernsey, D.L.; Jiang, H.; Bedard, K.; Evans, S.C.; Matsuoka, M.; Macgillivray, C.; Nightingale, M.; Perry, S.; Samuels, M.E.; Ferguson, M.; Rideout, A.L.; Ludman, M.; Skidmore, D.L.; Orr, A.; Benstead, T.
In: PLoS Genetics . (PLoS Genetics, August 2010, 6(8))
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[AR] Skidmore, D.L.
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