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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J
Clin Genet Feb 2021
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4See: A Flexible Browser to Explore 4C Data.
Ben Zouari Y(1)(2)(3)(4), Platania A(1)(2)(3)(4), Molitor AM(1)(2)(3)(4), Sexton T(1)(2)(3)(4).
Front Genet Jan. 21, 2020
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A chromatin scaffold for DNA damage recognition: how histone methyltransferases prime nucleosomes for repair of ultraviolet light-induced lesions.
Gsell C(1), Richly H(2), Coin F(3), Naegeli H(1).
Nucleic Acids Res Jan. 13, 2020
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A comprehensive resource for retrieving, visualizing, and integrating functional genomics data.
Blum M, Cholley PE, Malysheva V, Nicaise S, Moehlin J, Gronemeyer H, Mendoza-Parra MA
Life Sci Alliance Jan 2020
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A continuous evolution system for contracting the host range of bacteriophage T7.
Holtzman T(1)(2), Globus R(1), Molshanski-Mor S(1), Ben-Shem A(3), Yosef I(1), Qimron U(4).
Sci Rep Jan. 15, 2020
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A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B(1)(2), Bouameur JE(3), Hayot G(4)(5)(6)(7), Latypova X(1)(2), Pattabiraman S(8), Caillaud A(2), Si-Tayeb K(2), Besnard T(1)(2), Küry S(1)(2), Chariau C(9), Gaignerie A(9), David L(9)(10), Bordure P(11), Kaganovich D(8)(12), Bézieau S(1)(2), Golzio C(13)(14)(15)(16), Magin TM(17), Isidor B(18)(19).
Eur J Hum Genet Feb. 17, 2020
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Aggregation and Amyloidogenicity of the Nuclear Coactivator Binding Domain of CREB-Binding Protein.
Garcia AM, Giorgiutti C, El Khoury Y, Bauer V, Spiegelhalter C, Leize-Wagner E, Hellwig P, Potier N, Torbeev V
Chemistry Aug. 6, 2020
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A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Evangelista T, Lornage X, Carlier PG, Bassez G, Brochier G, Chanut A, Lacène E, Bui MT, Metay C, Oppermann U, Böhm J, Laporte J, Romero NB
J Neuropathol Exp Neurol Aug. 1, 2020
