Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 8

Results: 21
    1

    Back Cover, Volume 40, Issue 8.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
    By:
    • Martins, Carla;
    • Medeiros, Paula Frassinetti V.;
    • Leistner‐Segal, Sandra;
    • Dridi, Larbi;
    • Elcioglu, Nursel;
    • Wood, Jill;
    • Behnam, Mahdiyeh;
    • Noyan, Bilge;
    • Lacerda, Lucia;
    • Geraghty, Michael T.;
    • Labuda, Damian;
    • Giugliani, Roberto;
    • Pshezhetsky, Alexey V.
    Publication type:
    Article
    2

    Front Cover, Volume 40, Issue 8.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. i, doi. 10.1002/humu.23892
    By:
    • Wiel, Laurens;
    • Baakman, Coos;
    • Gilissen, Daan;
    • Veltman, Joris A.;
    • Vriend, Gerrit;
    • Gilissen, Christian
    Publication type:
    Article
    3
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    Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1181, doi. 10.1002/humu.23801
    By:
    • Rodríguez‐Jiménez, Carmen;
    • Pernía, Olga;
    • Mostaza, Jose;
    • Rodríguez‐Antolín, Carlos;
    • Dios García‐Díaz, Juan;
    • Alonso‐Cerezo, Concepción;
    • García‐Polo, Iluminada;
    • Blanco, Agustín;
    • Lahoz, Carlos;
    • Arrieta, Francisco;
    • Beltrán, Luis;
    • Díaz de Bustamante, Aránzazu;
    • Garzón‐Lorenzo, Lucía;
    • Álvarez‐Sala, Luis Antonio;
    • Asenjo, Ángel;
    • Ibáñez de Cáceres, Inmaculada;
    • Rodríguez‐Nóvoa, Sonia
    Publication type:
    Article
    6
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    Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
    By:
    • Tarnauskaitė, Žygimantė;
    • Bicknell, Louise S.;
    • Marsh, Joseph A.;
    • Murray, Jennie E.;
    • Parry, David A.;
    • Logan, Clare V.;
    • Bober, Michael B.;
    • Silva, Deepthi C.;
    • Duker, Angela L.;
    • Sillence, David;
    • Wise, Carol;
    • Jackson, Andrew P.;
    • Murina, Olga;
    • Reijns, Martin A. M.
    Publication type:
    Article
    10
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    12

    Mutation update for the SATB2 gene.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
    By:
    • Zarate, Yuri A.;
    • Bosanko, Katherine A.;
    • Caffrey, Aisling R.;
    • Bernstein, Jonathan A.;
    • Martin, Donna M.;
    • Williams, Marc S.;
    • Berry‐Kravis, Elizabeth M.;
    • Mark, Paul R.;
    • Manning, Melanie A.;
    • Bhambhani, Vikas;
    • Vargas, Marcelo;
    • Seeley, Andrea H.;
    • Estrada‐Veras, Juvianee I.;
    • Dooren, Marieke F.;
    • Schwab, Maria;
    • Vanderver, Adeline;
    • Melis, Daniela;
    • Alsadah, Adnan;
    • Sadler, Laurie;
    • Esch, Hilde
    Publication type:
    Article
    13

    A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1156, doi. 10.1002/humu.23769
    By:
    • Larson, Eric D.;
    • Magno, Jose Pedrito M.;
    • Steritz, Matthew J.;
    • Llanes, Erasmo Gonzalo d.V.;
    • Cardwell, Jonathan;
    • Pedro, Melquiadesa;
    • Roberts, Tori Bootpetch;
    • Einarsdottir, Elisabet;
    • Rosanes, Rose Anne Q.;
    • Greenlee, Christopher;
    • Santos, Rachel Ann P.;
    • Yousaf, Ayesha;
    • Streubel, Sven‐Olrik;
    • Santos, Aileen Trinidad R.;
    • Ruiz, Amanda G.;
    • Lagrana‐Villagracia, Sheryl Mae;
    • Ray, Dylan;
    • Yarza, Talitha Karisse L.;
    • Scholes, Melissa A.;
    • Anderson, Catherine B.
    Publication type:
    Article
    14

    Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1145, doi. 10.1002/humu.23768
    By:
    • Felden, Julia;
    • Baumann, Britta;
    • Ali, Manir;
    • Audo, Isabelle;
    • Ayuso, Carmen;
    • Bocquet, Beatrice;
    • Casteels, Ingele;
    • Garcia‐Sandoval, Blanca;
    • Jacobson, Samuel G.;
    • Jurklies, Bernhard;
    • Kellner, Ulrich;
    • Kessel, Line;
    • Lorenz, Birgit;
    • McKibbin, Martin;
    • Meunier, Isabelle;
    • Ravel, Thomy;
    • Rosenberg, Thomas;
    • Rüther, Klaus;
    • Vadala, Maria;
    • Wissinger, Bernd
    Publication type:
    Article
    15

    Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
    By:
    • Motta, Marialetizia;
    • Giancotti, Antonella;
    • Mastromoro, Gioia;
    • Chandramouli, Balasubramanian;
    • Pinna, Valentina;
    • Pantaleoni, Francesca;
    • Di Giosaffatte, Niccolò;
    • Petrini, Stefania;
    • Mazza, Tommaso;
    • D'Ambrosio, Valentina;
    • Versacci, Paolo;
    • Ventriglia, Flavia;
    • Chillemi, Giovanni;
    • Pizzuti, Antonio;
    • Tartaglia, Marco;
    • Luca, Alessandro
    Publication type:
    Article
    16
    17

    Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1115, doi. 10.1002/humu.23760
    By:
    • Shashi, Vandana;
    • Geist, Janelle;
    • Lee, Youngha;
    • Yoo, Yongjin;
    • Shin, Unbeom;
    • Schoch, Kelly;
    • Sullivan, Jennifer;
    • Stong, Nicholas;
    • Smith, Edward;
    • Jasien, Joan;
    • Kranz, Peter;
    • Lee, Yoonsung;
    • Shin, Yong Beom;
    • Wright, Nathan T.;
    • Choi, Murim;
    • Kontrogianni‐Konstantopoulos, Aikaterini;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Aday, Aaron;
    • Alejandro, Mercedes E.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1005, doi. 10.1002/humu.23575
    Publication type:
    Article