학술논문
'학술논문'
에서 검색결과 13건 | 목록
1~10
Academic Journal
Wright, C.F.; Quaife, N.M.; Cook, S.A.; Barton, P.J.R.; Ramos-Hernández, L.; Lara-Pezzi, E.; Danecek, P.; Samocha, K.E.; Kaplanis, J.; Gardner, E.J.; Eberhardt, R.Y.; Gallone, G.; Firth, H.V.; Hurles, M.E.; Whiffin, N.; Ferla, M.P.; Taylor, J.C.; Chao, K.R.; Karczewski, K.J.; Morales, J.; Balasubramanian, M.; Banka, S.; Gompertz, L.; Kerr, B.; Kirby, A.; Lynch, S.A.; Morton, J.E.V.; Pinz, H.; Sansbury, F.H.; Stewart, H.; Zuccarelli, B.D.; Juusola, J.; Retterer, K.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 June 2021, 108(6):1083-1094)
Academic Journal
Chopra, M.; Lyonnet, S.; Amiel, J.; Gordon, C.T.; McEntagart, M.; Clayton-Smith, J.; Platzer, K.; Klöckner, C.; Abou Jamra, R.; Shukla, A.; Girisha, K.M.; Kaur, P.; Kaur, A.; Pfundt, R.; Kleefstra, T.; Veenstra-Knol, H.; Mancini, G.M.S.; Stuurman, K.E.; Wilke, M.; Lechner, R.; Sleutels, F.; Cappuccio, G.; Brunetti-Pierri, N.; Kortüm, F.; Hempel, M.; Denecke, J.; Lehman, A.; Thompson, M.L.; Bebin, E.M.; Bijlsma, E.K.; Hoffer, M.J.V.; Peeters-Scholte, C.; Slavotinek, A.; Weiss, W.A.; Yip, T.; Hodoglugil, U.; Whittle, A.; diMonda, J.; Neira, J.; Yang, S.; Willaert, R.; Juusola, J.; Semotok, J.; Kirby, A.; Pinz, H.; Helbig, I.; McKeown, S.; Helbig, K.; Hadonou, M.; Short, J.; Yachelevich, N.; Lala, S.; Fernández-Jaen, A.; Pelayo, J.P.; Kamphausen, S.B.; Arelin, M.; Innes, A.M.; Niskakoski, A.; Amin, S.; Smithson, S.; Williams, M.; Evans, J.; Smedley, D.; de Burca, A.; Kini, U.; Delatycki, M.B.; Gallacher, L.; Yeung, A.; Pais, L.; Field, M.; Martin, E.; Charles, P.; Courtin, T.; Keren, B.; Iascone, M.; Cereda, A.; Poke, G.; Abadie, V.; Chalouhi, C.; Parthasarathy, P.; Halliday, B.J.; Robertson, S.P.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 June 2021, 108(6):1138-1150)
Academic Journal
Gauntner, T.D.; Karumuri, M.; Pinz, H.; Braddock, S.R.; Andreone, T.L.; Guzman, M.A.; Starnes, S.E.; Besmer, S.
In: Clinical Case Reports . (Clinical Case Reports, March 2021, 9(3):1518-1523)
Academic Journal
Almannai, M.; Obaid, O.; Faqeih, E.; Alasmari, A.; Samman, M.M.; Pinz, H.; Braddock, S.R.; Alkuraya, F.S.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 April 2020, 182(4):785-791)
Academic Journal
Cyrus, S.S.; Cohen, A.S.A.; Agbahovbe, R.; Gibson, W.T.; Avela, K.; Yeung, K.S.; Chung, B.H.Y.; Luk, H.-M.; Tkachenko, N.; Choufani, S.; Weksberg, R.; Lopez-Rangel, E.; Brown, K.; Saenz, M.S.; Svihovec, S.; McCandless, S.E.; Bird, L.M.; Garcia, A.G.; Gambello, M.J.; McWalter, K.; Schnur, R.E.; An, J.; Jones, S.J.M.; Bhalla, S.K.; Pinz, H.; Braddock, S.R.
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics . (American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 1 December 2019, 181(4):532-547)
Academic Journal
Platzer, K.; Lemke, J.R.; Jamra, R.; Sticht, H.; Edwards, S.L.; Miller, K.G.; Allen, W.; Wilson, C.; Angione, K.M.; Bonati, M.T.; Brasington, C.; Demmer, L.A.; Cho, M.T.; McWalter, K.; Falik-Zaccai, T.; Mandel, H.; Gamble, C.N.; Hellenbroich, Y.; Iascone, M.; Kok, F.; Ramos, L.; Mahida, S.; Smith-Hicks, C.; Marquardt, T.; Panis, B.; Pepler, A.; Stöbe, P.; Pinz, H.; Shinde, D.N.; Stegmann, A.P.A.; Stumpel, C.T.R.M.; Di Donato, N.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 February 2019, 104(2):203-212)
Academic Journal
Johnson, T.B.; Mechels, K.; Anderson, R.E.; Cain, J.T.; Sturdevant, D.A.; Roux, K.J.; Weimer, J.M.; Landsverk, M.; Braddock, S.; Pinz, H.; Wilson, M.A.
In: Scientific Reports . (Scientific Reports, 1 December 2018, 8(1))
Academic Journal
Pinz, H.; Braddock, S.R.; Pyle, L.C.; Izumi, K.; Skraban, C.; Tarpinian, J.; Zackai, E.; Bhoj, E.J.; Li, D.; Telegrafi, A.; Monaghan, K.G.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, April 2018, 176(4):969-972)
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Academic Journal
Zarate, Y.A.; Sellars, E.A.; Bosanko, K.; Smith-Hicks, C.L.; Mahida, S.; Cohen, J.S.; Fatemi, A.; Vernon, H.J.; McClellan, R.; Greene, C.; Egense, A.; Abbott, M.-A.; Siu, V.M.; Calhoun, A.R.U.L.; Bombei, H.; Pandya, A.; Powell, C.M.; Li, C.; Szybowska, M.; Kaylor, J.; Kalsner, L.; Basinger, A.; Slavotinek, A.M.; Perry, H.; Saenz, M.; Wilson, L.C.; Kumar, A.; Brain, C.; Balasubramanian, M.; Dubbs, H.; Ortiz-Gonzalez, X.R.; Zackai, E.; Stein, Q.; Schrier Vergano, S.; Britt, A.; Ray, J.W.; Sun, A.; Beck, A.E.; Golden-Grant, K.L.; Smith, W.; Bebin, E.M.; Picker, J.; Kirby, A.; Pinz, H.; Fleming, L.R.; Knyszek, B.; Steinraths, M.; Velasco Gonzalez, C.; Parikh, A.; Raimondi, C.; Angle, B.; Allen, W.; Schott, S.; Algrabli, A.; Robin, N.H.; Everman, D.B.; Gambello, M.J.; Chung, W.K.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, April 2018, 176(4):925-935)
Academic Journal
In: Journal of Neuropathology and Experimental Neurology . (Journal of Neuropathology and Experimental Neurology, 2021, 79(11):1250-1252)
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[AR] Pinz, H.
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