학술논문
'학술논문'
에서 검색결과 35건 | 목록
1~10
Academic Journal
Zhao, E.; Jelin, A.C.; Bomback, M.; Khan, A.; Krishna Murthy, S.; Sanna-Cherchi, S.; Gharavi, A.G.; Solowiejczyk, D.; Hays, T.; Vora, N.L.; Gilmore, K.L.; Giordano, J.L.; Wapner, R.J.; Lyford, A.
In: Prenatal Diagnosis . (Prenatal Diagnosis, March 2024, 44(3):343-351)
Academic Journal
In: Journal of Genetic Counseling . (Journal of Genetic Counseling, February 2024, 33(1):111-117)
Academic Journal
In: Seminars in Perinatology . (Seminars in Perinatology, 2024)
Academic Journal
Martino, J.; Liu, Q.; Vukojevic, K.; Ke, J.; Lim, T.Y.; Khan, A.; Gupta, Y.; Perez, A.; Yan, Z.; Milo Rasouly, H.; Vena, N.; Lippa, N.; Kiryluk, K.; Sampogna, R.V.; Gharavi, A.G.; Sanna-Cherchi, S.; Saraga-Babic, M.; Giordano, J.L.; Wapner, R.J.; Saraga, M.; Westland, R.; Bodria, M.; Piaggio, G.; Ghiggeri, G.M.; Bendapudi, P.K.; Iglesias, A.D.; Tasic, V.; Wang, F.; Ionita-Laza, I.; Mendelsohn, C.L.; D'Agati, V.D.
In: Genetics in Medicine . (Genetics in Medicine, December 2023, 25(12))
Academic Journal
Lowther, C.; Valkanas, E.; Wang, H.Z.; Currall, B.B.; O'Keefe, K.; Kurtas, N.E.; Hao, S.P.; Weisburd, B.; Fu, J.; Wong, I.; Collins, R.L.; Zhao, X.; Austin-Tse, C.A.; Lucente, D.; MacArthur, D.G.; O'Donnell-Luria, A.; Rehm, H.L.; Brand, H.; Talkowski, M.E.; Pierce-Hoffman, E.; Whelan, C.W.; Jalili, V.; Evangelista, E.; Lemire, G.; Gauthier, L.D.; Tolonen, C.; Sahakian, N.; Stevens, C.; Giordano, J.L.; DiVito, M.; Wapner, R.J.; Aggarwal, V.S.; Levy, B.; An, J.-Y.; Dong, S.; Sanders, S.J.; Norton, M.E.; MacKenzie, T.C.; Devlin, B.; Gilmore, K.; Vora, N.L.; Powell, B.C.; Brandt, A.; Vetrini, F.; Hodge, J.C.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 September 2023, 110(9):1454-1469)
Academic Journal
van der Sluijs, P.J.; Santen, G.W.E.; Joosten, M.; van den Born, M.; Diderich, K.E.M.; Govaerts, L.C.P.; Alby, C.; Attié-Bitach, T.; Martinovic, J.; Gilmore, K.; Vora, N.L.; Dubourg, C.; Fradin, M.; Wang, T.; Eichler, E.E.; Kurtz-Nelson, E.C.; Ahlers, K.P.; Earl, R.K.; Arts, P.; Byrne, A.; Scott, H.S.; Barnett, C.P.; Thompson, E.; Ashfaq, M.; Borrie, S.; Northrup, H.; Baban, A.; Busa, T.; Gorokhova, S.; Carriero, M.; Mari, F.; Cesario, C.; Chong, K.; Cueto-González, A.M.; Dempsey, J.C.; Doherty, D.; Farholt, S.; Gerkes, E.H.; Gregersen, P.A.; Hickey, S.E.; Parbhoo, K.; Lefebvre, M.; Thauvin-Robinet, C.; O'Leary, M.; Patrier, S.; Popp, B.; Santos-Simarro, F.; Stoltenburg, C.; Vulto-van Silfhout, A.T.; Zahir, F.R.; Wilnai, Y.; Giordano, J.L.; Wapner, R.J.; Rosenfeld, J.A.; Haak, M.C.
In: Genetics in Medicine . (Genetics in Medicine, August 2022, 24(8):1753-1760)
Academic Journal
Dhombres, F.; Morgan, P.; Chaudhari, B.P.; Filges, I.; Sparks, T.N.; Lapunzina, P.; Roscioli, T.; Agarwal, U.; Aggarwal, S.; Beneteau, C.; Cacheiro, P.; Smedley, D.; Carmody, L.C.; Sundaramurthi, J.C.; Robinson, P.N.; Collardeau-Frachon, S.; Dempsey, E.A.; Dufke, A.; Duyzend, M.H.; el Ghosh, M.; Giordano, J.L.; Wapner, R.J.; Glad, R.; Grinfelde, I.; Iliescu, D.G.; Ladewig, M.S.; Munoz-Torres, M.C.; Toro, S.; Vasilevsky, N.A.; Haendel, M.A.; Pollazzon, M.; Radio, F.C.; Rodo, C.; Silva, R.G.; Valenzuela, I.; Zemet, R.
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics . (American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, June 2022, 190(2):231-242)
Academic Journal
Lippa, N.; Bier, L.; Revah-Politi, A.; May, H.; Kushary, S.; Vena, N.; Sands, T.T.; Wapner, R.J.; Anyane-Yeboa, K.; Gharavi, A.G.; Goldstein, D.B.; Rasouly, H.M.; Cocchi, E.; Giordano, J.L.
In: Genetics in Medicine . (Genetics in Medicine, April 2022, 24(4):862-869)
Academic Journal
Mellis, R.; Chitty, L.S.; Eberhardt, R.Y.; Hurles, M.E.; Hamilton, S.J.; McMullan, D.J.; Kilby, M.D.; Maher, E.R.; Giordano, J.L.; Wapner, R.J.; Aggarwal, V.; Goldstein, D.B.
In: BJOG: An International Journal of Obstetrics and Gynaecology . (BJOG: An International Journal of Obstetrics and Gynaecology, January 2022, 129(1):52-61)
Academic Journal
Van De Weghe, J.C.; Miller, C.V.; Dempsey, J.C.; Bamshad, M.J.; Doherty, D.; Giordano, J.L.; Mathijssen, I.B.; Mojarrad, M.; Mohajeri, M.S.A.; Eslahi, A.; Lugtenberg, D.; de Vries, B.B.A.; van Leeuwen, E.; Pajkrt, E.; Klaver, C.C.W.; Houlden, H.; Maroofian, R.; Waters, A.M.; Nickerson, D.A.; Aggarwal, V.S.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 14 January 2021, 2(1))
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[AR] Giordano, J.L.
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