Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 1

Results: 24
    1

    Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 53, doi. 10.1002/humu.22456
    By:
    • Garibay, Gorka Ruiz;
    • Acedo, Alberto;
    • García‐Casado, Zaida;
    • Gutiérrez‐Enríquez, Sara;
    • Tosar, Alicia;
    • Romero, Atocha;
    • Garre, Pilar;
    • Llort, Gemma;
    • Thomassen, Mads;
    • Díez, Orland;
    • Pérez‐Segura, Pedro;
    • Díaz‐Rubio, Eduardo;
    • Velasco, Eladio A.;
    • Caldés, Trinidad;
    • Hoya, Miguel
    Publication type:
    Article
    2

    Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
    By:
    • Sawyer, Sarah L.;
    • Schwartzentruber, Jeremy;
    • Beaulieu, Chandree L.;
    • Dyment, David;
    • Smith, Amanda;
    • Chardon, Jodi Warman;
    • Yoon, Grace;
    • Rouleau, Guy A.;
    • Suchowersky, Oksana;
    • Siu, Victoria;
    • Murphy, Lisa;
    • Hegele, Robert A.;
    • Marshall, Christian R.;
    • Bulman, Dennis E.;
    • Majewski, Jacek;
    • Tarnopolsky, Mark;
    • Boycott, Kym M.
    Publication type:
    Article
    3
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    Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
    By:
    • Mackay, Donna S.;
    • Borman, Arundhati Dev;
    • Sui, Ruifang;
    • Born, L. Ingeborgh;
    • Berson, Eliot L.;
    • Ocaka, Louise A.;
    • Davidson, Alice E.;
    • Heckenlively, John R.;
    • Branham, Kari;
    • Ren, Huanan;
    • Lopez, Irma;
    • Maria, Maleeha;
    • Azam, Maleeha;
    • Henkes, Arjen;
    • Blokland, Ellen;
    • Andreasson, [Sten;
    • Baere, Elfride;
    • Bennett, Jean;
    • Chader, Gerald J.;
    • Berger, Wolfgang
    Publication type:
    Article
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    Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 105, doi. 10.1002/humu.22460
    By:
    • Rodriguez‐Flores, Juan L.;
    • Fakhro, Khalid;
    • Hackett, Neil R.;
    • Salit, Jacqueline;
    • Fuller, Jennifer;
    • Agosto‐Perez, Francisco;
    • Gharbiah, Maey;
    • Malek, Joel A.;
    • Zirie, Mahmoud;
    • Jayyousi, Amin;
    • Badii, Ramin;
    • Al‐Nabet Al‐Marri, Ajayeb;
    • Chouchane, Lotfi;
    • Stadler, Dora J.;
    • Mezey, Jason G.;
    • Crystal, Ronald G.
    Publication type:
    Article
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    A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
    By:
    • Thomas, Sophie;
    • Wright, Kevin J.;
    • Corre, Stéphanie Le;
    • Micalizzi, Alessia;
    • Romani, Marta;
    • Abhyankar, Avinash;
    • Saada, Julien;
    • Perrault, Isabelle;
    • Amiel, Jeanne;
    • Litzler, Julie;
    • Filhol, Emilie;
    • Elkhartoufi, Nadia;
    • Kwong, Mandy;
    • Casanova, Jean‐Laurent;
    • Boddaert, Nathalie;
    • Baehr, Wolfgang;
    • Lyonnet, Stanislas;
    • Munnich, Arnold;
    • Burglen, Lydie;
    • Chassaing, Nicolas
    Publication type:
    Article
    14

    Contents.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. i, doi. 10.1002/humu.22492
    Publication type:
    Article
    15
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    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 76, doi. 10.1002/humu.22461
    By:
    • Murray, Jennie E.;
    • Bicknell, Louise S.;
    • Yigit, Gökhan;
    • Duker, Angela L.;
    • Kogelenberg, Margriet;
    • Haghayegh, Sara;
    • Wieczorek, Dagmar;
    • Kayserili, Hülya;
    • Albert, Michael H.;
    • Wise, Carol A.;
    • Brandon, January;
    • Kleefstra, Tjitske;
    • Warris, Adilia;
    • Flier, Michiel;
    • Bamforth, J. Steven;
    • Doonanco, Kurston;
    • Adès, Lesley;
    • Ma, Alan;
    • Field, Michael;
    • Johnson, Diana
    Publication type:
    Article
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    Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 15, doi. 10.1002/humu.22448
    By:
    • Bento, Celeste;
    • Percy, Melanie J.;
    • Gardie, Betty;
    • Maia, Tabita Magalhães;
    • Wijk, Richard;
    • Perrotta, Silverio;
    • Della Ragione, Fulvio;
    • Almeida, Helena;
    • Rossi, Cedric;
    • Girodon, François;
    • Åström, Maria;
    • Neumann, Drorit;
    • Schnittger, Susanne;
    • Landin, Britta;
    • Minkov, Milen;
    • Randi, Maria Luigia;
    • Richard, Stéphane;
    • Casadevall, Nicole;
    • Vainchenker, William;
    • Rives, Susana
    Publication type:
    Article
    20

    Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 149, doi. 10.1002/humu.22466
    By:
    • Giorgio, Elisa;
    • Rolyan, Harshvardhan;
    • Kropp, Laura;
    • Chakka, Anish Baswanth;
    • Yatsenko, Svetlana;
    • Gregorio, Eleonora Di;
    • Lacerenza, Daniela;
    • Vaula, Giovanna;
    • Talarico, Flavia;
    • Mandich, Paola;
    • Toro, Camilo;
    • Pierre, Eleonore Eymard;
    • Labauge, Pierre;
    • Capellari, Sabina;
    • Cortelli, Pietro;
    • Vairo, Filippo Pinto;
    • Miguel, Diego;
    • Stubbolo, Danielle;
    • Marques, Lourenco Charles;
    • Gahl, William
    Publication type:
    Article
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    Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 58, doi. 10.1002/humu.22465
    By:
    • Qiao, Ying;
    • Mondal, Kajari;
    • Trapani, Valentina;
    • Wen, Jiadi;
    • Carpenter, Gillian;
    • Wildin, Robert;
    • Price, E. Magda;
    • Gibbons, Richard J.;
    • Eichmeyer, Jennifer;
    • Jiang, Ruby;
    • DuPont, Barbara;
    • Martell, Sally;
    • Lewis, Suzanne M. E.;
    • Robinson, Wendy P.;
    • O'Driscoll, Mark;
    • Wolf, Federica I.;
    • Zwick, Michael E.;
    • Rajcan‐Separovic, Evica
    Publication type:
    Article