Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 2

Results: 33
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    Comment on Gialluisi et al.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 157, doi. 10.1038/ejhg.2013.152
    By:
    • ten Kate, Leo P;
    • Teeuw, Marieke;
    • Henneman, Lidewij;
    • Cornel, Martina C
    Publication type:
    Article
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    Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112
    By:
    • Uusimaa, Johanna;
    • Evans, Julie;
    • Smith, Conrad;
    • Butterworth, Anna;
    • Craig, Kate;
    • Ashley, Neil;
    • Liao, Chunyan;
    • Carver, Janet;
    • Diot, Alan;
    • Macleod, Lorna;
    • Hargreaves, Iain;
    • Al-Hussaini, Abdulrahman;
    • Faqeih, Eissa;
    • Asery, Ali;
    • Al Balwi, Mohammed;
    • Eyaid, Wafaa;
    • Al-Sunaid, Areej;
    • Kelly, Deirdre;
    • van Mourik, Indra;
    • Ball, Sarah
    Publication type:
    Article
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    Non-meiotic chromosome instability in human immature oocytes.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 202, doi. 10.1038/ejhg.2013.106
    By:
    • Daina, Gemma;
    • Ramos, Laia;
    • Rius, Mariona;
    • Obradors, Albert;
    • del Rey, Javier;
    • Giralt, Magda;
    • Campillo, Mercedes;
    • Velilla, Esther;
    • Pujol, Aïda;
    • Martinez-Pasarell, Olga;
    • Benet, Jordi;
    • Navarro, Joaquima
    Publication type:
    Article
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    A MEN1 syndrome with a paraganglioma.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 283, doi. 10.1038/ejhg.2013.128
    By:
    • Jamilloux, Yvan;
    • Favier, Judith;
    • Pertuit, Morgane;
    • Delage-Corre, Manuela;
    • Lopez, Stéphanie;
    • Teissier, Marie-Pierre;
    • Mathonnet, Muriel;
    • Galinat, Sophie;
    • Barlier, Anne;
    • Archambeaud, Françoise
    Publication type:
    Article
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    The Genome of the Netherlands: design, and project goals.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 221, doi. 10.1038/ejhg.2013.118
    By:
    • Boomsma, Dorret I;
    • Wijmenga, Cisca;
    • Slagboom, Eline P;
    • Swertz, Morris A;
    • Karssen, Lennart C;
    • Abdellaoui, Abdel;
    • Ye, Kai;
    • Guryev, Victor;
    • Vermaat, Martijn;
    • van Dijk, Freerk;
    • Francioli, Laurent C;
    • Hottenga, Jouke Jan;
    • Laros, Jeroen F J;
    • Li, Qibin;
    • Li, Yingrui;
    • Cao, Hongzhi;
    • Chen, Ruoyan;
    • Du, Yuanping;
    • Li, Ning;
    • Cao, Sujie
    Publication type:
    Article
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    Clinical utility gene card for: Hereditary thrombocythemia.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.117
    By:
    • Hussein, Kais;
    • Percy, Melanie;
    • McMullin, Mary Frances;
    • Schwarz, Jiří;
    • Schnittger, Susanne;
    • Porret, Naomi;
    • Martinez-Aviles, Luz Maria;
    • Paricio, Beatriz Bellosillo;
    • Giraudier, Stéphane;
    • Skoda, Radek;
    • Lippert, Eric;
    • Hermouet, Sylvie;
    • Cario, Holger
    Publication type:
    Article
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    Clarifying assent in pediatric research.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 266, doi. 10.1038/ejhg.2013.119
    By:
    • Giesbertz, Noor A A;
    • Bredenoord, Annelien L;
    • van Delden, Johannes J M
    Publication type:
    Article
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    The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 216, doi. 10.1038/ejhg.2013.116
    By:
    • Medway, Christopher;
    • Combarros, Onofre;
    • Cortina-Borja, Mario;
    • Butler, Helen T;
    • Ibrahim-Verbaas, Carla A;
    • de Bruijn, Renée F A G;
    • Koudstaal, Peter J;
    • van Duijn, Cornelia M;
    • Ikram, M Arfan;
    • Mateo, Ignacio;
    • Sánchez-Juan, Pascual;
    • Lehmann, Michael G;
    • Heun, Reinhard;
    • Kölsch, Heike;
    • Deloukas, Panos;
    • Hammond, Naomi;
    • Coto, Eliecer;
    • Alvarez, Victoria;
    • Kehoe, Patrick G;
    • Barber, Rachel
    Publication type:
    Article
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    Reply to ten Kate et al.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 157, doi. 10.1038/ejhg.2013.153
    By:
    • Gialluisi, Alessandro;
    • Pippucci, Tommaso;
    • Romeo, Giovanni
    Publication type:
    Article
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    Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
    By:
    • Tran Mau-Them, Frederic;
    • Willems, Marjolaine;
    • Albrecht, Beate;
    • Sanchez, Elodie;
    • Puechberty, Jacques;
    • Endele, Sabine;
    • Schneider, Anouck;
    • Ruiz Pallares, Nathalie;
    • Missirian, Chantal;
    • Rivier, Francois;
    • Girard, Manon;
    • Holder, Muriel;
    • Manouvrier, Sylvie;
    • Touitou, Isabelle;
    • Lefort, Genevieve;
    • Sarda, Pierre;
    • Moncla, Anne;
    • Drunat, Severine;
    • Wieczorek, Dagmar;
    • Genevieve, David
    Publication type:
    Article
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    Mutations in the C-terminus of CDKL5: proceed with caution.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 270, doi. 10.1038/ejhg.2013.133
    By:
    • Diebold, Bertrand;
    • Delépine, Chloé;
    • Gataullina, Svetlana;
    • Delahaye, Andrée;
    • Nectoux, Juliette;
    • Bienvenu, Thierry
    Publication type:
    Article
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