Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 7

Results: 10
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    Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 811, doi. 10.1002/humu.24213
    By:
    • Calpena, Eduardo;
    • McGowan, Simon J.;
    • Blanco Kelly, Fiona;
    • Boudry‐Labis, Elise;
    • Dieux‐Coeslier, Anne;
    • Harrison, Rachel;
    • Johnson, Diana;
    • Lachlan, Katherine;
    • Morton, Jenny E. V.;
    • Stewart, Helen;
    • Vasudevan, Pradeep;
    • Twigg, Stephen R. F.;
    • Wilkie, Andrew O. M.
    Publication type:
    Article
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    New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 862, doi. 10.1002/humu.24211
    By:
    • Szot, Justin O.;
    • Slavotinek, Anne;
    • Chong, Karen;
    • Brandau, Oliver;
    • Nezarati, Marjan;
    • Cueto‐González, Anna M.;
    • Patel, Millan S.;
    • Devine, Walter P.;
    • Rego, Shannon;
    • Acyinena, Alicia P.;
    • Shannon, Patrick;
    • Myles‐Reid, Diane;
    • Blaser, Susan;
    • Mieghem, Tim V.;
    • Yavuz‐Kienle, Halenur;
    • Skladny, Heyko;
    • Miller, Kristen;
    • Riera, Miereia D. T.;
    • Martínez, Silvia A.;
    • Tizzano, Eduardo F.
    Publication type:
    Article
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    Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
    By:
    • Halewa, Judith;
    • Marouillat, Sylviane;
    • Dixneuf, Manon;
    • Thépault, Rose‐Anne;
    • Ung, Dévina C.;
    • Chatron, Nicolas;
    • Gérard, Bénédicte;
    • Ghoumid, Jamal;
    • Lesca, Gaëtan;
    • Till, Marianne;
    • Smol, Thomas;
    • Couque, Nathalie;
    • Ruaud, Lyse;
    • Chune, Valérie;
    • Grotto, Sarah;
    • Verloes, Alain;
    • Vuillaume, Marie‐Laure;
    • Toutain, Annick;
    • Raynaud, Martine;
    • Laumonnier, Frédéric
    Publication type:
    Article
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    Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
    By:
    • Field, Michael J.;
    • Kumar, Raman;
    • Hackett, Anna;
    • Kayumi, Sayaka;
    • Shoubridge, Cheryl A.;
    • Ewans, Lisa J.;
    • Ivancevic, Atma M.;
    • Dudding‐Byth, Tracy;
    • Carroll, Renée;
    • Kroes, Thessa;
    • Gardner, Alison E.;
    • Sullivan, Patricia;
    • Ha, Thuong T.;
    • Schwartz, Charles E.;
    • Cowley, Mark J.;
    • Dinger, Marcel E.;
    • Palmer, Elizabeth E.;
    • Christie, Louise;
    • Shaw, Marie;
    • Roscioli, Tony
    Publication type:
    Article
    10

    Issue Information.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 797, doi. 10.1002/humu.24044
    Publication type:
    Article