Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 8

Results: 18
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    DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 812, doi. 10.1002/humu.22999
    By:
    • Sommen, Manou;
    • Schrauwen, Isabelle;
    • Vandeweyer, Geert;
    • Boeckx, Nele;
    • Corneveaux, Jason J.;
    • Ende, Jenneke;
    • Boudewyns, An;
    • Leenheer, Els;
    • Janssens, Sandra;
    • Claes, Kathleen;
    • Verstreken, Margriet;
    • Strenzke, Nicola;
    • Predöhl, Friederike;
    • Wuyts, Wim;
    • Mortier, Geert;
    • Bitner‐Glindzicz, Maria;
    • Moser, Tobias;
    • Coucke, Paul;
    • Huentelman, Matthew J.;
    • Camp, Guy
    Publication type:
    Article
    3

    Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
    By:
    • Saunier, Chloé;
    • Støve, Svein Isungset;
    • Popp, Bernt;
    • Gérard, Bénédicte;
    • Blenski, Marina;
    • AhMew, Nicholas;
    • Bie, Charlotte;
    • Goldenberg, Paula;
    • Isidor, Bertrand;
    • Keren, Boris;
    • Leheup, Bruno;
    • Lampert, Laetitia;
    • Mignot, Cyril;
    • Tezcan, Kamer;
    • Mancini, Grazia M.S.;
    • Nava, Caroline;
    • Wasserstein, Melissa;
    • Bruel, Ange‐Line;
    • Thevenon, Julien;
    • Masurel, Alice
    Publication type:
    Article
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    Issue Information.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 713, doi. 10.1002/humu.22884
    Publication type:
    Article
    6

    Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 732, doi. 10.1002/humu.23010
    By:
    • Goos, Jacqueline A.C.;
    • Fenwick, Aimee L.;
    • Swagemakers, Sigrid M.A.;
    • McGowan, Simon J.;
    • Knight, Samantha J.L.;
    • Twigg, Stephen R.F.;
    • Hoogeboom, A. Jeannette M.;
    • Dooren, Marieke F.;
    • Magielsen, Frank J.;
    • Wall, Steven A.;
    • Mathijssen, Irene M.J.;
    • Wilkie, Andrew O.M.;
    • Spek, Peter J.;
    • Ouweland, Ans M.W.
    Publication type:
    Article
    7

    Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 719, doi. 10.1002/humu.23011
    By:
    • Tan, Powell Patrick Cheng;
    • Rogic, Sanja;
    • Zoubarev, Anton;
    • McDonald, Cameron;
    • Lui, Frances;
    • Charathsandran, Gayathiri;
    • Jacobson, Matthew;
    • Belmadani, Manuel;
    • Leong, Justin;
    • Rossum, Thea;
    • Portales‐Casamar, Elodie;
    • Qiao, Ying;
    • Calli, Kristina;
    • Liu, Xudong;
    • Hudson, Melissa;
    • Rajcan‐Separovic, Evica;
    • Lewis, ME Suzanne;
    • Pavlidis, Paul
    Publication type:
    Article
    8
    9

    Cover Image, Volume 37, Issue 8.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. i, doi. 10.1002/humu.23039
    By:
    • Vitellius, Géraldine;
    • Fagart, Jérôme;
    • Delemer, Brigitte;
    • Amazit, Larbi;
    • Ramos, Nelly;
    • Bouligand, Jérôme;
    • Billan, Florian;
    • Castinetti, Frédéric;
    • Guiochon‐Mantel, Anne;
    • Trabado, Séverine;
    • Lombès, Marc
    Publication type:
    Article
    10

    Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
    By:
    • Srour, Myriam;
    • Caron, Véronique;
    • Pearson, Toni;
    • Nielsen, Sarah B.;
    • Lévesque, Sébastien;
    • Delrue, Marie‐Ange;
    • Becker, Troy A.;
    • Hamdan, Fadi F.;
    • Kibar, Zoha;
    • Sattler, Shannon G.;
    • Schneider, Michael C.;
    • Bitoun, Pierre;
    • Chassaing, Nicolas;
    • Rosenfeld, Jill A.;
    • Xia, Fan;
    • Desai, Sonal;
    • Roeder, Elizabeth;
    • Kimonis, Virginia;
    • Schneider, Adele;
    • Littlejohn, Rebecca Okashah
    Publication type:
    Article
    11

    Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 776, doi. 10.1002/humu.23005
    By:
    • Jeanson, Ludovic;
    • Thomas, Lucie;
    • Copin, Bruno;
    • Coste, André;
    • Sermet‐Gaudelus, Isabelle;
    • Dastot‐Le Moal, Florence;
    • Duquesnoy, Philippe;
    • Montantin, Guy;
    • Collot, Nathalie;
    • Tissier, Sylvie;
    • Papon, Jean‐François;
    • Clement, Annick;
    • Louis, Bruno;
    • Escudier, Estelle;
    • Amselem, Serge;
    • Legendre, Marie
    Publication type:
    Article
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    Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
    By:
    • Knaus, Alexej;
    • Awaya, Tomonari;
    • Helbig, Ingo;
    • Afawi, Zaid;
    • Pendziwiat, Manuela;
    • Abu‐Rachma, Jubran;
    • Thompson, Miles D.;
    • Cole, David E.;
    • Skinner, Steve;
    • Annese, Fran;
    • Canham, Natalie;
    • Schweiger, Michal R.;
    • Robinson, Peter N.;
    • Mundlos, Stefan;
    • Kinoshita, Taroh;
    • Munnich, Arnold;
    • Murakami, Yoshiko;
    • Horn, Denise;
    • Krawitz, Peter M.
    Publication type:
    Article
    17

    A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

    Published in:
    Human Mutation, 2016, v. 37, n. 8, p. 727, doi. 10.1002/humu.22998
    By:
    • Reish, Orit;
    • Aspit, Liam;
    • Zouella, Arielle;
    • Roth, Yehudah;
    • Polak‐Charcon, Sylvie;
    • Baboushkin, Tatiana;
    • Benyamini, Lilach;
    • Scheetz, Todd E.;
    • Mussaffi, Huda;
    • Sheffield, Val C.;
    • Parvari, Ruti
    Publication type:
    Article
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