Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 4

Results: 30
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10

    Haplotype structure and positive selection at TLR1.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 551, doi. 10.1038/ejhg.2013.194
    By:
    • Heffelfinger, Christopher;
    • Pakstis, Andrew J;
    • Speed, William C;
    • Clark, Allison P;
    • Haigh, Eva;
    • Fang, Rixun;
    • Furtado, Mahohar R;
    • Kidd, Kenneth K;
    • Snyder, Michael P
    Publication type:
    Article
    11
    12

    Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
    By:
    • Rouzier, Cécile;
    • Chaussenot, Annabelle;
    • Serre, Valérie;
    • Fragaki, Konstantina;
    • Bannwarth, Sylvie;
    • Ait-El-Mkadem, Samira;
    • Attarian, Shahram;
    • Kaphan, Elsa;
    • Cano, Aline;
    • Delmont, Emilien;
    • Sacconi, Sabrina;
    • de Camaret, Bénédicte Mousson;
    • Rio, Marlène;
    • Lebre, Anne-Sophie;
    • Jardel, Claude;
    • Deschamps, Romain;
    • Richelme, Christian;
    • Pouget, Jean;
    • Chabrol, Brigitte;
    • Paquis-Flucklinger, Véronique
    Publication type:
    Article
    13
    14
    15
    16
    17

    Clinical utility gene card for: Choroideremia.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.183
    By:
    • Moosajee, Mariya;
    • Ramsden, Simon C;
    • Black, Graeme CM;
    • Seabra, Miguel C;
    • Webster, Andrew R
    Publication type:
    Article
    18
    19

    Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181
    By:
    • Tarabeux, Julien;
    • Zeitouni, Bruno;
    • Moncoutier, Virginie;
    • Tenreiro, Henrique;
    • Abidallah, Khadija;
    • Lair, Séverine;
    • Legoix-Né, Patricia;
    • Leroy, Quentin;
    • Rouleau, Etienne;
    • Golmard, Lisa;
    • Barillot, Emmanuel;
    • Stern, Marc-Henri;
    • Rio-Frio, Thomas;
    • Stoppa-Lyonnet, Dominique;
    • Houdayer, Claude
    Publication type:
    Article
    20
    21
    22
    23

    Looking for CDKN1C enhancers.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 442, doi. 10.1038/ejhg.2013.234
    By:
    • Cerrato, Flavia;
    • De Crescenzo, Agostina;
    • Riccio, Andrea
    Publication type:
    Article
    24

    Functional analysis of 11 novel GBA alleles.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 511, doi. 10.1038/ejhg.2013.182
    By:
    • Malini, Erika;
    • Grossi, Serena;
    • Deganuto, Marta;
    • Rosano, Camillo;
    • Parini, Rossella;
    • Dominisini, Silvia;
    • Cariati, Roberta;
    • Zampieri, Stefania;
    • Bembi, Bruno;
    • Filocamo, Mirella;
    • Dardis, Andrea
    Publication type:
    Article
    25

    A novel locus for episodic ataxia:UBR4 the likely candidate.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 505, doi. 10.1038/ejhg.2013.173
    By:
    • Conroy, Judith;
    • McGettigan, Paul;
    • Murphy, Raymond;
    • Webb, David;
    • Murphy, Sinéad M;
    • McCoy, Blathnaid;
    • Albertyn, Christine;
    • McCreary, Dara;
    • McDonagh, Cara;
    • Walsh, Orla;
    • Lynch, SallyAnn;
    • Ennis, Sean
    Publication type:
    Article
    26
    27

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
    By:
    • Doco-Fenzy, Martine;
    • Leroy, Camille;
    • Schneider, Anouck;
    • Petit, Florence;
    • Delrue, Marie-Ange;
    • Andrieux, Joris;
    • Perrin-Sabourin, Laurence;
    • Landais, Emilie;
    • Aboura, Azzedine;
    • Puechberty, Jacques;
    • Girard, Manon;
    • Tournaire, Magali;
    • Sanchez, Elodie;
    • Rooryck, Caroline;
    • Ameil, Agnès;
    • Goossens, Michel;
    • Jonveaux, Philippe;
    • Lefort, Geneviève;
    • Taine, Laurence;
    • Cailley, Dorothée
    Publication type:
    Article
    28
    29
    30

    A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
    By:
    • de Brouwer, Arjan PM;
    • Nabuurs, Sander B;
    • Verhaart, Ingrid EC;
    • Oudakker, Astrid R;
    • Hordijk, Roel;
    • Yntema, Helger G;
    • Hordijk-Hos, Jannet M;
    • Voesenek, Krysta;
    • de Vries, Bert BA;
    • van Essen, Ton;
    • Chen, Wei;
    • Hu, Hao;
    • Chelly, Jamel;
    • den Dunnen, Johan T;
    • Kalscheuer, Vera M;
    • Aartsma-Rus, Annemieke M;
    • Hamel, Ben CJ;
    • van Bokhoven, Hans;
    • Kleefstra, Tjitske
    Publication type:
    Article