Results
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2061.
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. [electronic resource] by
- Huang, Lijia
- Vanstone, Megan R
- Hartley, Taila
- Osmond, Matthew
- Barrowman, Nick
- Allanson, Judith
- Baker, Laura
- Dabir, Tabib A
- Dipple, Katrina M
- Dobyns, William B
- Estrella, Jane
- Faghfoury, Hanna
- Favaro, Francine P
- Goel, Himanshu
- Gregersen, Pernille A
- Gripp, Karen W
- Grix, Art
- Guion-Almeida, Maria-Leine
- Harr, Margaret H
- Hudson, Cindy
- Hunter, Alasdair G W
- Johnson, John
- Joss, Shelagh K
- Kimball, Amy
- Kini, Usha
- Kline, Antonie D
- Lauzon, Julie
- Lildballe, Dorte L
- López-González, Vanesa
- Martinezmoles, Johanna
- Meldrum, Cliff
- Mirzaa, Ghayda M
- Morel, Chantal F
- Morton, Jenny E V
- Pyle, Louise C
- Quintero-Rivera, Fabiola
- Richer, Julie
- Scheuerle, Angela E
- Schönewolf-Greulich, Bitten
- Shears, Deborah J
- Silver, Josh
- Smith, Amanda C
- Temple, I Karen
- van de Kamp, Jiddeke M
- van Dijk, Fleur S
- Vandersteen, Anthony M
- White, Sue M
- Zackai, Elaine H
- Zou, Ruobing
- Bulman, Dennis E
- Boycott, Kym M
- Lines, Matthew A
Producer: 20161018
In:
Human mutation vol. 37
Availability: No items available.
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2062.
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Minor class splicing shapes the zebrafish transcriptome during development. [electronic resource] by
- Markmiller, Sebastian
- Cloonan, Nicole
- Lardelli, Rea M
- Doggett, Karen
- Keightley, Maria-Cristina
- Boglev, Yeliz
- Trotter, Andrew J
- Ng, Annie Y
- Wilkins, Simon J
- Verkade, Heather
- Ober, Elke A
- Field, Holly A
- Grimmond, Sean M
- Lieschke, Graham J
- Stainier, Didier Y R
- Heath, Joan K
Producer: 20140422
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 111
Availability: No items available.
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2063.
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The large N-terminal region of the Brr2 RNA helicase guides productive spliceosome activation. [electronic resource] by
- Absmeier, Eva
- Wollenhaupt, Jan
- Mozaffari-Jovin, Sina
- Becke, Christian
- Lee, Chung-Tien
- Preussner, Marco
- Heyd, Florian
- Urlaub, Henning
- Lührmann, Reinhard
- Santos, Karine F
- Wahl, Markus C
Producer: 20160419
In:
Genes & development vol. 29
Availability: No items available.
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2064.
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Cryo-EM structure of a human spliceosome activated for step 2 of splicing. [electronic resource] by
- Bertram, Karl
- Agafonov, Dmitry E
- Liu, Wen-Ti
- Dybkov, Olexandr
- Will, Cindy L
- Hartmuth, Klaus
- Urlaub, Henning
- Kastner, Berthold
- Stark, Holger
- Lührmann, Reinhard
Producer: 20170627
In:
Nature vol. 542
Availability: No items available.
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2065.
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2066.
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Disease modeling of core pre-mRNA splicing factor haploinsufficiency. [electronic resource] by
- Wood, Katherine A
- Rowlands, Charlie F
- Qureshi, Wasay Mohiuddin Shaikh
- Thomas, Huw B
- Buczek, Weronika A
- Briggs, Tracy A
- Hubbard, Simon J
- Hentges, Kathryn E
- Newman, William G
- O'Keefe, Raymond T
Producer: 20200615
In:
Human molecular genetics vol. 28
Availability: No items available.
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2067.
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2068.
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2069.
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2070.
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2071.
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2072.
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2073.
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Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. [electronic resource] by
- Makishima, Hideki
- Visconte, Valeria
- Sakaguchi, Hirotoshi
- Jankowska, Anna M
- Abu Kar, Sarah
- Jerez, Andres
- Przychodzen, Bartlomiej
- Bupathi, Manoj
- Guinta, Kathryn
- Afable, Manuel G
- Sekeres, Mikkael A
- Padgett, Richard A
- Tiu, Ramon V
- Maciejewski, Jaroslaw P
Producer: 20120619
In:
Blood vol. 119
Availability: No items available.
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2074.
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2075.
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2076.
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Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome. [electronic resource] by
- Wang, A
- Forman-Kay, J
- Luo, Y
- Luo, M
- Chow, Y H
- Plumb, J
- Friesen, J D
- Tsui, L C
- Heng, H H
- Woolford, J L
- Hu, J
Producer: 19971219
In:
Human molecular genetics vol. 6
Availability: No items available.
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2077.
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2078.
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2079.
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2080.
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