Works in Human Genetics, 2016, Vol 135, Issue 5


Results: 11
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    A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 513, doi. 10.1007/s00439-016-1657-7
    By:
    • Ben Said, Mariem;
    • Grati, M'hamed;
    • Ishimoto, Takahiro;
    • Zou, Bing;
    • Chakchouk, Imen;
    • Ma, Qi;
    • Yao, Qi;
    • Hammami, Bouthaina;
    • Yan, Denise;
    • Mittal, Rahul;
    • Nakamichi, Noritaka;
    • Ghorbel, Abdelmonem;
    • Neng, Lingling;
    • Tekin, Mustafa;
    • Shi, Xiao;
    • Kato, Yukio;
    • Masmoudi, Saber;
    • Lu, Zhongmin;
    • Hmani, Mounira;
    • Liu, Xuezhong
    Publication type:
    Article
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    Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 525, doi. 10.1007/s00439-016-1660-z
    By:
    • Alazami, Anas;
    • Al-Qattan, Sarah;
    • Faqeih, Eissa;
    • Alhashem, Amal;
    • Alshammari, Muneera;
    • Alzahrani, Fatema;
    • Al-Dosari, Mohammed;
    • Patel, Nisha;
    • Alsagheir, Afaf;
    • Binabbas, Bassam;
    • Alzaidan, Hamad;
    • Alsiddiky, Abdulmonem;
    • Alharbi, Nasser;
    • Alfadhel, Majid;
    • Kentab, Amal;
    • Daza, Riza;
    • Kircher, Martin;
    • Shendure, Jay;
    • Hashem, Mais;
    • Alshahrani, Saif
    Publication type:
    Article
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    Refining the Y chromosome phylogeny with southern African sequences.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 541, doi. 10.1007/s00439-016-1651-0
    By:
    • Barbieri, Chiara;
    • Hübner, Alexander;
    • Macholdt, Enrico;
    • Ni, Shengyu;
    • Lippold, Sebastian;
    • Schröder, Roland;
    • Mpoloka, Sununguko;
    • Purps, Josephine;
    • Roewer, Lutz;
    • Stoneking, Mark;
    • Pakendorf, Brigitte
    Publication type:
    Article
    6

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9
    By:
    • Szafranski, Przemyslaw;
    • Gambin, Tomasz;
    • Dharmadhikari, Avinash;
    • Akdemir, Kadir;
    • Jhangiani, Shalini;
    • Schuette, Jennifer;
    • Godiwala, Nihal;
    • Yatsenko, Svetlana;
    • Sebastian, Jessica;
    • Madan-Khetarpal, Suneeta;
    • Surti, Urvashi;
    • Abellar, Rosanna;
    • Bateman, David;
    • Wilson, Ashley;
    • Markham, Melinda;
    • Slamon, Jill;
    • Santos-Simarro, Fernando;
    • Palomares, María;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
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