Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 6

Results: 25
    1

    Whole-genome sequencing in health care.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
    By:
    • van El, Carla G;
    • Cornel, Martina C;
    • Borry, Pascal;
    • Hastings, Ros J;
    • Fellmann, Florence;
    • Hodgson, Shirley V;
    • Howard, Heidi C;
    • Cambon-Thomsen, Anne;
    • Knoppers, Bartha M;
    • Meijers-Heijboer, Hanne;
    • Scheffer, Hans;
    • Tranebjaerg, Lisbeth;
    • Dondorp, Wybo;
    • de Wert, Guido M W R
    Publication type:
    Article
    2

    Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 620, doi. 10.1038/ejhg.2012.219
    By:
    • Wiśniowiecka-Kowalnik, Barbara;
    • Kastory-Bronowska, Monika;
    • Bartnik, Magdalena;
    • Derwińska, Katarzyna;
    • Dymczak-Domini, Wanda;
    • Szumbarska, Dorota;
    • Ziemka, Ewa;
    • Szczałuba, Krzysztof;
    • Sykulski, Maciej;
    • Gambin, Tomasz;
    • Gambin, Anna;
    • Shaw, Chad A;
    • Mazurczak, Tadeusz;
    • Obersztyn, Ewa;
    • Bocian, Ewa;
    • Stankiewicz, Paweł
    Publication type:
    Article
    3

    Clinical utility gene card for: osteogenesis imperfecta.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
    By:
    • van Dijk, Fleur S;
    • Dalgleish, Raymond;
    • Malfait, Fransiska;
    • Maugeri, Alessandra;
    • Rusinska, Agnieszka;
    • Semler, Oliver;
    • Symoens, Sofie;
    • Pals, Gerard
    Publication type:
    Article
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    Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 659, doi. 10.1038/ejhg.2012.229
    By:
    • Esko, Tõnu;
    • Mezzavilla, Massimo;
    • Nelis, Mari;
    • Borel, Christelle;
    • Debniak, Tadeusz;
    • Jakkula, Eveliina;
    • Julia, Antonio;
    • Karachanak, Sena;
    • Khrunin, Andrey;
    • Kisfali, Peter;
    • Krulisova, Veronika;
    • Aušrelé Kučinskiené, Zita;
    • Rehnström, Karola;
    • Traglia, Michela;
    • Nikitina-Zake, Liene;
    • Zimprich, Fritz;
    • Antonarakis, Stylianos E;
    • Estivill, Xavier;
    • Glavač, Damjan;
    • Gut, Ivo
    Publication type:
    Article
    8

    The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
    By:
    • Leroy, Camille;
    • Landais, Emilie;
    • Briault, Sylvain;
    • David, Albert;
    • Tassy, Olivier;
    • Gruchy, Nicolas;
    • Delobel, Bruno;
    • Grégoire, Marie-José;
    • Leheup, Bruno;
    • Taine, Laurence;
    • Lacombe, Didier;
    • Delrue, Marie-Ange;
    • Toutain, Annick;
    • Paubel, Agathe;
    • Mugneret, Francine;
    • Thauvin-Robinet, Christel;
    • Arpin, Stéphanie;
    • Le Caignec, Cedric;
    • Jonveaux, Philippe;
    • Beri, Mylène
    Publication type:
    Article
    9
    10

    Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 637, doi. 10.1038/ejhg.2012.226
    By:
    • Koutsopoulos, Olga S;
    • Kretz, Christine;
    • Weller, Claudia M;
    • Roux, Aurelien;
    • Mojzisova, Halina;
    • Böhm, Johann;
    • Koch, Catherine;
    • Toussaint, Anne;
    • Heckel, Emilie;
    • Stemkens, Daphne;
    • ter Horst, Simone A J;
    • Thibault, Christelle;
    • Koch, Muriel;
    • Mehdi, Syed Q;
    • Bijlsma, Emilia K;
    • Mandel, Jean-Louis;
    • Vermot, Julien;
    • Laporte, Jocelyn
    Publication type:
    Article
    11

    Clinical utility gene card for: Pseudohypoparathyroidism.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
    By:
    • Mantovani, Giovanna;
    • Linglart, Agnes;
    • Garin, Intza;
    • Silve, Caroline;
    • Elli, Francesca M;
    • de Nanclares, Guiomar Perez
    Publication type:
    Article
    12

    Functional characterization of desmin mutant p.P419S.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 589, doi. 10.1038/ejhg.2012.212
    By:
    • Brodehl, Andreas;
    • Dieding, Mareike;
    • Cakar, Hamdin;
    • Klauke, Bärbel;
    • Walhorn, Volker;
    • Gummert, Jan;
    • Anselmetti, Dario;
    • Milting, Hendrik
    Publication type:
    Article
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    Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
    By:
    • Tiziano, Francesco D;
    • Lomastro, Rosa;
    • Di Pietro, Lorena;
    • Barbara Pasanisi, Maria;
    • Fiori, Stefania;
    • Angelozzi, Carla;
    • Abiusi, Emanuela;
    • Angelini, Corrado;
    • Sorarù, Gianni;
    • Gaiani, Alessandra;
    • Mongini, Tiziana;
    • Vercelli, Liliana;
    • Vasco, Gessica;
    • Vita, Giuseppe;
    • Luca Vita, Gian;
    • Messina, Sonia;
    • Politano, Luisa;
    • Passamano, Luigia;
    • Di Gregorio, Grazia;
    • Montomoli, Cristina
    Publication type:
    Article
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    Reply to Brodehl et al.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 6, p. 590, doi. 10.1038/ejhg.2012.214
    By:
    • Hedberg, Carola;
    • Melberg, Atle;
    • Kuhl, Angelika;
    • Jenne, Dieter;
    • Oldfors, Anders
    Publication type:
    Article