Showing 1 - 15 results of 15 for search 'Biesecker, L', query time: 0.30s
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Characterization of short tandem repeats from thirty-one human telomeres. by Rosenberg, M, Hui, L, Ma, J, Nusbaum, H, Clark, K, Robinson, L, Dziadzio, L, Swain, P, Keith, T, Hudson, T, Biesecker, L, Flint, J
Published 1997Journal article -
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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. by Hurst, J, Jenkins, D, Vasudevan, P, Kirchhoff, M, Skovby, F, Rieubland, C, Gallati, S, Rittinger, O, Kroisel, P, Johnson, D, Biesecker, L, Wilkie, A
Published 2011Journal article -
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Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. by Slavotinek, A, Rosenberg, M, Knight, S, Gaunt, L, Fergusson, W, Killoran, C, Clayton-Smith, J, Kingston, H, Campbell, R, Flint, J, Donnai, D, Biesecker, L
Published 1999Journal article -
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2012Journal article -
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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. by Vester, A, Velez-Ruiz, G, McLaughlin, H, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A
Published 2013Journal article -
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Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. by Rees, MG, Ng, D, Ruppert, S, Turner, C, Beer, N, Swift, A, Morken, M, Below, J, Blech, I, Mullikin, J, McCarthy, M, Biesecker, L, Gloyn, A, Collins, F
Published 2012Journal article -
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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo by Vester, A, Velez-Ruiz, G, McLaughlin, H, Nisc, C, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A
Published 2013Journal article -
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Zuechner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A, Progra, N
Published 2012Journal article -
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. by Ng, D, Thakker, N, Corcoran, C, Donnai, D, Perveen, R, Schneider, A, Hadley, D, Tifft, C, Zhang, L, Wilkie, A, van der Smagt, J, Gorlin, R, Burgess, S, Bardwell, V, Black, G, Biesecker, L
Published 2004Journal article -
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A candidate gene for autoimmune myasthenia gravis. by Landouré, G, Knight, M, Stanescu, H, Taye, A, Shi, Y, Diallo, O, Johnson, J, Hernandez, D, Traynor, B, Biesecker, L, Elkahloun, A, Rinaldi, C, Vincent, A, Willcox, N, Kleta, R, Fischbeck, K, Burnett, BG
Published 2012Journal article -
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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. by McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A
Published 2010Journal article