Works matching DE "ADENOSINE triphosphatase genes"


Results: 83
    1

    A tale of two halves.

    Published in:
    Nature Structural & Molecular Biology, 2006, v. 13, n. 8, p. 670, doi. 10.1038/nsmb0806-670
    By:
    • Eggleston, Angela K.
    Publication type:
    Article
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    Dizygotic twinning.

    Published in:
    Human Reproduction Update, 2008, v. 14, n. 1, p. 37, doi. 10.1093/humupd/dmm036
    By:
    • Chantal Hoekstra;
    • Zhen Zhen Zhao;
    • Cornelius B. Lambalk;
    • Gonneke Willemsen;
    • Nicholas G. Martin;
    • Dorret I. Boomsma;
    • Grant W. Montgomery
    Publication type:
    Article
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    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

    Published in:
    2018
    By:
    • Fassio, Anna;
    • Esposito, Alessandro;
    • Mitsuhiro Kato;
    • Hirotomo Saitsu;
    • Mei, Davide;
    • Marini, Carla;
    • Conti, Valerio;
    • Mitsuko Nakashima;
    • Nobuhiko Okamoto;
    • Turker, Akgun Olmez;
    • Albuz, Burcu;
    • Gündüz, C. Nur Semerci;
    • Yanagihara, Keiko;
    • Belmonte, Elisa;
    • Maragliano, Luca;
    • Ramsey, Keri;
    • Balak, Chris;
    • Siniard, Ashley;
    • Narayanan, Vinodh;
    • Ohba, Chihiro
    Publication type:
    journal article
    31

    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

    Published in:
    2017
    By:
    • Desai, Radha;
    • Frazier, Ann E.;
    • Durigon, Romina;
    • Patel, Harshil;
    • Jones, Aleck W.;
    • Rosa, Ilaria Dalla;
    • Lake, Nicole J.;
    • Compton, Alison G.;
    • Mountford, Hayley S.;
    • Tucker, Elena J.;
    • Mitchell, Alice L. R.;
    • Jackson, Deborah;
    • Sesay, Abdul;
    • Di Re, Miriam;
    • van den Heuvel, Lambert P.;
    • Burke, Derek;
    • Francis, David;
    • Lunke, Sebastian;
    • McGillivray, George;
    • Mandelstam, Simone
    Publication type:
    journal article
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    Severe Darier's disease patient with mutation of ATP2A2.

    Published in:
    Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2014, v. 31, n. 5, p. 338, doi. 10.5114/pdia.2014.44030
    By:
    • Cheng-Rang Li;
    • Yu Zhang;
    • Wei-Xue Jia;
    • Xue-Min Xiao;
    • Ning-Yan Gu;
    • Nan Sheng;
    • Qiu-Xia Mao;
    • Xu Yao
    Publication type:
    Article
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    A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 5, p. 639, doi. 10.1038/ejhg.2014.154
    By:
    • Oh, Se-Kyung;
    • Baek, Jeong-In;
    • Weigand, Karl M;
    • Venselaar, Hanka;
    • Swarts, Herman G P;
    • Park, Seong-Hyun;
    • Hashim Raza, Muhammad;
    • Jung, Da Jung;
    • Choi, Soo-Young;
    • Lee, Sang-Heun;
    • Friedrich, Thomas;
    • Vriend, Gert;
    • Koenderink, Jan B;
    • Kim, Un-Kyung;
    • Lee, Kyu-Yup
    Publication type:
    Article
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