Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 4

Results: 19
    1

    Cover, Volume 42, Issue 4.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. i, doi. 10.1002/humu.24202
    By:
    • Wang, Huijun;
    • Xiao, Feifan;
    • Dong, Xinran;
    • Lu, Yulan;
    • Cheng, Guoqiang;
    • Wang, Laishuan;
    • Lu, Wei;
    • Yang, Lin;
    • Chen, Liping;
    • Kang, Wenqing;
    • Li, Long;
    • Pan, Xinnian;
    • Wei, Qiufen;
    • Zhuang, Deyi;
    • Chen, Dongmei;
    • Yin, Zhaoqing;
    • Yang, Ling;
    • Ni, Qi;
    • Liu, Renchao;
    • Li, Gang
    Publication type:
    Article
    2
    3

    The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 473, doi. 10.1002/humu.24182
    By:
    • Franken, Gijs A. C.;
    • Müller, Dominik;
    • Mignot, Cyril;
    • Keren, Boris;
    • Lévy, Jonathan;
    • Tabet, Anne‐Claude;
    • Germanaud, David;
    • Tejada, María‐Isabel;
    • Kroes, Hester Y.;
    • Nievelstein, Rutger A. J.;
    • Brimble, Elise;
    • Ruzhnikov, Maria;
    • Claverie‐Martin, Felix;
    • Szczepańska, Maria;
    • Ćuk, Martin;
    • Latta, Femke;
    • Konrad, Martin;
    • Martínez‐Cruz, Luis A.;
    • Bindels, René J. M.;
    • Hoenderop, Joost G. J.
    Publication type:
    Article
    4
    5
    6
    7

    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
    By:
    • Woerden, Geeske M.;
    • Bos, Melanie;
    • Konink, Charlotte;
    • Distel, Ben;
    • Avagliano Trezza, Rossella;
    • Shur, Natasha E.;
    • Barañano, Kristin;
    • Mahida, Sonal;
    • Chassevent, Anna;
    • Schreiber, Allison;
    • Erwin, Angelika L.;
    • Gripp, Karen W.;
    • Rehman, Fatima;
    • Brulleman, Saskia;
    • McCormack, Róisín;
    • Geus, Gwynna;
    • Kalsner, Louisa;
    • Sorlin, Arthur;
    • Bruel, Ange‐Line;
    • Koolen, David A.
    Publication type:
    Article
    8

    CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 323, doi. 10.1002/humu.24174
    By:
    • Zeitz, Christina;
    • Nassisi, Marco;
    • Laurent‐Coriat, Caroline;
    • Andrieu, Camille;
    • Boyard, Fiona;
    • Condroyer, Christel;
    • Démontant, Vanessa;
    • Antonio, Aline;
    • Lancelot, Marie‐Elise;
    • Frederiksen, Helen;
    • Kloeckener‐Gruissem, Barbara;
    • El‐Shamieh, Said;
    • Zanlonghi, Xavier;
    • Meunier, Isabelle;
    • Roux, Anne‐Françoise;
    • Mohand‐Saïd, Saddek;
    • Sahel, José‐Alain;
    • Audo, Isabelle
    Publication type:
    Article
    9

    Corrigendum.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 487, doi. 10.1002/humu.24175
    Publication type:
    Article
    10
    11

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
    By:
    • Kausthubham, Neethukrishna;
    • Shukla, Anju;
    • Gupta, Neerja;
    • Bhavani, Gandham S.;
    • Kulshrestha, Samarth;
    • Das Bhowmik, Aneek;
    • Moirangthem, Amita;
    • Bijarnia‐Mahay, Sunita;
    • Kabra, Madhulika;
    • Puri, Ratna D.;
    • Mandal, Kausik;
    • Verma, Ishwar C.;
    • Bielas, Stephanie L.;
    • Phadke, Shubha R.;
    • Dalal, Ashwin;
    • Girisha, Katta M.
    Publication type:
    Article
    12
    13
    14

    Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 373, doi. 10.1002/humu.24167
    By:
    • Laurent, Sacha;
    • Gehrig, Corinne;
    • Nouspikel, Thierry;
    • Amr, Sami S.;
    • Oza, Andrea;
    • Murphy, Elissa;
    • Vannier, Anne;
    • Béna, Frédérique Sloan;
    • Carminho‐Rodrigues, Maria Teresa;
    • Blouin, Jean‐Louis;
    • Cao Van, Hélène;
    • Abramowicz, Marc;
    • Paoloni‐Giacobino, Ariane;
    • Guipponi, Michel
    Publication type:
    Article
    15
    16

    Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 408, doi. 10.1002/humu.24164
    By:
    • Saint‐Martin, Cécile;
    • Cauchois‐Le Mière, Marine;
    • Rex, Emily;
    • Soukarieh, Omar;
    • Arnoux, Jean‐Baptiste;
    • Buratti, Julien;
    • Bouvet, Delphine;
    • Frébourg, Thierry;
    • Gaildrat, Pascaline;
    • Shyng, Show‐Ling;
    • Bellanné‐Chantelot, Christine;
    • Martins, Alexandra
    Publication type:
    Article
    17
    18

    Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 392, doi. 10.1002/humu.24162
    By:
    • Terhune, Elizabeth A.;
    • Cuevas, Melissa T.;
    • Monley, Anna M.;
    • Wethey, Cambria I.;
    • Chen, Xiaomi;
    • Cattell, Maria V.;
    • Bayrak, Melisa N.;
    • Bland, Morgan R.;
    • Sutphin, Brittan;
    • Trahan, George Devon;
    • Taylor, Matthew R. G.;
    • Niswander, Lee A.;
    • Jones, Kenneth L.;
    • Baschal, Erin E.;
    • Antunes, Lilian;
    • Dobbs, Matthew;
    • Gurnett, Christina;
    • Appel, Bruce;
    • Gray, Ryan;
    • Hadley Miller, Nancy
    Publication type:
    Article
    19

    Issue Information.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 321, doi. 10.1002/humu.24041
    Publication type:
    Article