Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 1

Results: 16
    1

    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
    By:
    • Malicdan, May Christine V.;
    • Vilboux, Thierry;
    • Ben‐Zeev, Bruria;
    • Guo, Jennifer;
    • Eliyahu, Aviva;
    • Pode‐Shakked, Ben;
    • Dori, Amir;
    • Kakani, Sravan;
    • Chandrasekharappa, Settara C.;
    • Ferreira, Carlos R.;
    • Shelestovich, Natalia;
    • Marek‐Yagel, Dina;
    • Pri‐Chen, Hadass;
    • Blatt, Ilan;
    • Niederhuber, John E.;
    • He, Langping;
    • Toro, Camilo;
    • Taylor, Robert W.;
    • Deeken, John;
    • Yardeni, Tal
    Publication type:
    Article
    2
    3
    4

    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
    By:
    • Fiorentino, Alessia;
    • Fujinami, Kaoru;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Pontikos, Nikolas;
    • Arasanz Armengol, Monica;
    • Plagnol, Vincent;
    • Hayashi, Takaaki;
    • Iwata, Takeshi;
    • Parker, Matthew;
    • Fowler, Tom;
    • Rendon, Augusto;
    • Gardner, Jessica C.;
    • Henderson, Robert H.;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.;
    • for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
    Publication type:
    Article
    5

    DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
    By:
    • Marsh, Ashley P. L.;
    • Edwards, Timothy J.;
    • Galea, Charles;
    • Cooper, Helen M.;
    • Engle, Elizabeth C.;
    • Jamuar, Saumya S.;
    • Méneret, Aurélie;
    • Moutard, Marie‐Laure;
    • Nava, Caroline;
    • Rastetter, Agnès;
    • Robinson, Gail;
    • Rouleau, Guy;
    • Roze, Emmanuel;
    • Spencer‐Smith, Megan;
    • Trouillard, Oriane;
    • Billette de Villemeur, Thierry;
    • Walsh, Christopher A.;
    • Yu, Timothy W.;
    • IRC5 Consortium;
    • Heron, Delphine
    Publication type:
    Article
    6

    Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 152, doi. 10.1002/humu.23362
    By:
    • Zhang, Wenjuan;
    • Taylor, S. Paige;
    • Ennis, Hayley A.;
    • Forlenza, Kimberly N.;
    • Duran, Ivan;
    • Li, Bing;
    • Sanchez, Jorge A. Ortiz;
    • Nevarez, Lisette;
    • Nickerson, Deborah A.;
    • Bamshad, Michael;
    • University of Washington Center for Mendelian Genomics;
    • Lachman, Ralph S.;
    • Krakow, Deborah;
    • Cohn, Daniel H.
    Publication type:
    Article
    7
    8
    9
    10
    11

    Issue Information.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 1, doi. 10.1002/humu.23322
    Publication type:
    Article
    12

    Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
    By:
    • Jenkins, Zandra A.;
    • Macharg, Alison;
    • Chang, Cheng‐Yee;
    • van Kogelenberg, Margriet;
    • Morgan, Tim;
    • Frentz, Sophia;
    • Wei, Wenhua;
    • Pilch, Jacek;
    • Hannibal, Mark;
    • Foulds, Nicola;
    • McGillivray, George;
    • Leventer, Richard J.;
    • García‐Miñaúr, Sixto;
    • Sugito, Stuart;
    • Nightingale, Scott;
    • Markie, David M.;
    • Dudding, Tracy;
    • Kapur, Raj P.;
    • Robertson, Stephen P.
    Publication type:
    Article
    13
    14

    CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 140, doi. 10.1002/humu.23359
    By:
    • Durand, Christelle M.;
    • Dhers, Laura;
    • Tesson, Christelle;
    • Tessa, Alessandra;
    • Fouillen, Laetitia;
    • Jacqueré, Stéphanie;
    • Raymond, Laure;
    • Coupry, Isabelle;
    • Benard, Giovanni;
    • Darios, Frédéric;
    • El‐ Hachimi, Khalid H.;
    • Astrea, Guja;
    • Rivier, François;
    • Banneau, Guillaume;
    • Pujol, Claire;
    • Lacombe, Didier;
    • Durr, Alexandra;
    • Babin, Patrick J.;
    • Santorelli, Filippo M.;
    • Pietrancosta, Nicolas
    Publication type:
    Article
    15

    Cover Image, Volume 39, Issue 1.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
    By:
    • Marsh, Ashley P. L.;
    • Edwards, Timothy J.;
    • Galea, Charles;
    • Cooper, Helen M.;
    • Engle, Elizabeth C.;
    • Jamuar, Saumya S.;
    • Méneret, Aurélie;
    • Moutard, Marie‐Laure;
    • Nava, Caroline;
    • Rastetter, Agnès;
    • Robinson, Gail;
    • Rouleau, Guy;
    • Roze, Emmanuel;
    • Spencer‐Smith, Megan;
    • Trouillard, Oriane;
    • Billette de Villemeur, Thierry;
    • Walsh, Christopher A.;
    • Yu, Timothy W.;
    • IRC5 Consortium;
    • Heron, Delphine
    Publication type:
    Article
    16

    Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
    By:
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn A.;
    • Ohnesorg, Thomas;
    • Eggers, Stefanie;
    • Hanna, Chloe;
    • Hersmus, Remko;
    • Thompson, Elizabeth M.;
    • Baxendale, Anne;
    • Verge, Charles F.;
    • Lafferty, Antony R.;
    • Marzuki, Nanis S.;
    • Santosa, Ardy;
    • Listyasari, Nurin A.;
    • Riedl, Stefan;
    • Warne, Garry;
    • Looijenga, Leendert;
    • Faradz, Sultana;
    • Ayers, Katie L.;
    • Sinclair, Andrew H.
    Publication type:
    Article