Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 5

Results: 22
    1

    Front Cover, Volume 41, Issue 5.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. i, doi. 10.1002/humu.24023
    By:
    • Yang, Yajuan;
    • Guo, Ting;
    • Liu, Ran;
    • Ke, Hanni;
    • Xu, Weiwei;
    • Zhao, Shidou;
    • Qin, Yingying
    Publication type:
    Article
    2
    3
    4

    Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
    By:
    • Lecoquierre, François;
    • Brehin, Anne‐Claire;
    • Coutant, Sophie;
    • Coursimault, Juliette;
    • Bazin, Anne;
    • Finck, Wilfrid;
    • Benoist, Guillaume;
    • Begorre, Marianne;
    • Beneteau, Claire;
    • Cailliez, Daniel;
    • Chenal, Pierre;
    • De Jong, Mirjam;
    • Degré, Sophie;
    • Devisme, Louise;
    • Francannet, Christine;
    • Gérard, Bénédicte;
    • Jeanne, Corinne;
    • Joubert, Madeleine;
    • Journel, Hubert;
    • Laurichesse Delmas, Hélène
    Publication type:
    Article
    5
    6
    7

    Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 973, doi. 10.1002/humu.23986
    By:
    • Gilbert, Melissa A.;
    • Schultz‐Rogers, Laura;
    • Rajagopalan, Ramakrishnan;
    • Grochowski, Christopher M.;
    • Wilkins, Benjamin J.;
    • Biswas, Sawona;
    • Conlin, Laura K.;
    • Fiorino, Kristin N.;
    • Dhamija, Radhika;
    • Pack, Michael A.;
    • Klee, Eric W.;
    • Piccoli, David A.;
    • Spinner, Nancy B.
    Publication type:
    Article
    8

    ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
    By:
    • Yates, Thabo M.;
    • Drucker, Morgan;
    • Barnicoat, Angela;
    • Low, Karen;
    • Gerkes, Erica H.;
    • Fry, Andrew E.;
    • Parker, Michael J.;
    • O'Driscoll, Mary;
    • Charles, Perrine;
    • Cox, Helen;
    • Marey, Isabelle;
    • Keren, Boris;
    • Rinne, Tuula;
    • McEntagart, Meriel;
    • Ramachandran, Vijaya;
    • Drury, Suzanne;
    • Vansenne, Fleur;
    • Sival, Deborah A.;
    • Herkert, Johanna C.;
    • Callewaert, Bert
    Publication type:
    Article
    9
    10
    11
    12

    Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
    By:
    • De Franco, Elisa;
    • Saint‐Martin, Cécile;
    • Brusgaard, Klaus;
    • Knight Johnson, Amy E.;
    • Aguilar‐Bryan, Lydia;
    • Bowman, Pamela;
    • Arnoux, Jean‐Baptiste;
    • Larsen, Annette Rønholt;
    • May, Sanyoura;
    • Greeley, Siri Atma W.;
    • Calzada‐León, Raúl;
    • Harman, Bradley;
    • Houghton, Jayne A. L.;
    • Nishimura‐Meguro, Elisa;
    • Laver, Thomas W.;
    • Ellard, Sian;
    • Gaudio, Daniela;
    • Christesen, Henrik Thybo;
    • Bellanné‐Chantelot, Christine;
    • Flanagan, Sarah E.
    Publication type:
    Article
    13

    Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 998, doi. 10.1002/humu.23993
    By:
    • Ascari, Giulia;
    • Peelman, Frank;
    • Farinelli, Pietro;
    • Rosseel, Toon;
    • Lambrechts, Nina;
    • Wunderlich, Kirsten A.;
    • Wagner, Matias;
    • Nikopoulos, Konstantinos;
    • Martens, Pernille;
    • Balikova, Irina;
    • Derycke, Lara;
    • Holtappels, Gabriële;
    • Krysko, Olga;
    • Van Laethem, Thalia;
    • De Jaegere, Sarah;
    • Guillemyn, Brecht;
    • De Rycke, Riet;
    • De Bleecker, Jan;
    • Creytens, David;
    • Van Dorpe, Jo
    Publication type:
    Article
    14
    15

    BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
    By:
    • Scott, Tiana M.;
    • Guo, Hui;
    • Eichler, Evan E.;
    • Rosenfeld, Jill A.;
    • Pang, Kaifang;
    • Liu, Zhandong;
    • Lalani, Seema;
    • Bi, Weimin;
    • Yang, Yaping;
    • Bacino, Carlos A.;
    • Streff, Haley;
    • Lewis, Andrea M.;
    • Koenig, Mary K.;
    • Thiffault, Isabelle;
    • Bellomo, Allison;
    • Everman, David B.;
    • Jones, Julie R.;
    • Stevenson, Roger E.;
    • Bernier, Raphael;
    • Gilissen, Christian
    Publication type:
    Article
    16
    17
    18
    19

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
    By:
    • Zielonka, Matthias;
    • Garbade, Sven F.;
    • Gleich, Florian;
    • Okun, Jürgen G.;
    • Nagamani, Sandesh C. S.;
    • Gropman, Andrea L.;
    • Hoffmann, Georg F.;
    • Kölker, Stefan;
    • Posset, Roland;
    • Ah Mew, Nicholas;
    • Burrage, Lindsay C.;
    • Schulze, Andreas;
    • Berry, Susan A.;
    • Baumgartner, Matthias R.;
    • Diaz, George A.;
    • Merritt, J. Lawrence;
    • Bedoyan, Jirair K.;
    • Wong, Derek;
    • Harding, Cary O.;
    • Yudkoff, Marc
    Publication type:
    Article
    20
    21
    22

    Issue Information.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 861, doi. 10.1002/humu.23809
    Publication type:
    Article