未登录 The Palaeobiology of Two Crown Group Cnidarians: Haootia quadriformis and Mamsetia manunis gen. et sp. nov. from the Ediacaran of Newfoundland, Canada McIlroy, D.; Pasinetti, G.; Perez-Pinedo, D.; McKean, C.; Dufour, S. C.; Matthews, J. J.; Menon, L. R.; Nicholls, R.; Taylor, R. S. 分享 收藏
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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes Ferreira, Igor Ribeiro; Costa, Regis Afonso; Ferreira Gomes, Leonardo Henrique; dos Santos Cunha, Wilton Darleans; Tyszler, Latife Salomao; Freitas, Silvia; Llerena Junior, Juan Clinton; Meira de Vasconcelos, Zilton Farias; Nicholls, Robert D.; Guida, Leticia da Cunha 分享 收藏
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Ostern, Rune; Houge, Gunnar; Hafstrom, Maria; Fassi, Emily; Houlden, Henry; Wassink-Ruiter, Jolien S. Klein; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M., Jr.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M. 分享 收藏
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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency Schiff, Manuel; Haberberger, Birgit; Xia, Chuanwu; Mohsen, Al-Walid; Goetzman, Eric S.; Wang, Yudong; Uppala, Radha; Zhang, Yuxun; Karunanidhi, Anuradha; Prabhu, Dolly; Alharbi, Hana; Prochownik, Edward V.; Haack, Tobias; Haeberle, Johannes; Munnich, Arnold; Roetig, Agnes; Taylor, Robert W.; Nicholls, Robert D.; Kim, Jung-Ja; Prokisch, Holger; Vockley, Jerry 分享 收藏
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing Kishore, Shivendra; Khanna, Amit; Zhang, Zhaiyi; Hui, Jingyi; Balwierz, Piotr J.; Stefan, Mihaela; Beach, Carol; Nicholls, Robert D.; Zavolan, Mihaela; Stamm, Stefan 分享 收藏
A new genetic disorder in mitochondrial fatty acid β-oxidation:: ACAD9 deficiency He, M.; Rutledge, S. L.; Kelly, D. R.; Palmer, C. A.; Murdoch, G.; Majumder, N.; Nicholls, R. D.; Pei, Z.; Watkins, P. A.; Vockley, J. 分享 收藏
Recent assembly of an imprinted domain from non-imprinted components Rapkins, Robert W.; Hore, Tim; Smithwick, Megan; Ager, Eleanor; Pask, Andrew J.; Renfree, Marilyn B.; Kohn, Matthias; Hameister, Horst; Nicholls, Robert D.; Deakin, Janine E.; Graves, Jennifer A. Marshall 分享 收藏
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Possible genomic imprinting of three human obesity-related genetic loci Dong, CH; Li, WD; Geller, F; Lei, L; Li, D; Gorlova, OY; Hebebrand, J; Amos, CI; Nicholls, RD; Price, RA 分享 收藏
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