Found: 7

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  • Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178
    By:
    • Vatta, Matteo;
    • Niu, Zhiyv;
    • Lupski, James R.;
    • Putnam, Philip;
    • Spoonamore, Katherine G.;
    • Fang, Ping;
    • Eng, Christine M.;
    • Willis, Alecia S.
    Publication type:
    Article

  • PRODH variants and risk for schizophrenia.

    Published in:
    Amino Acids, 2008, v. 35, n. 4, p. 673, doi. 10.1007/s00726-008-0111-0
    By:
    • Alecia Willis;
    • Hans Bender;
    • Gary Steel;
    • David Valle
    Publication type:
    Article

  • Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.

    Published in:
    Prenatal Diagnosis, 2012, v. 32, n. 4, p. 315, doi. 10.1002/pd.3860
    By:
    • Willis, Alecia S.;
    • Veyver, Ignatia;
    • Eng, Christine M.
    Publication type:
    Article

  • Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

    Published in:
    Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406
    By:
    • Häberle, Johannes;
    • Shchelochkov, Oleg A.;
    • Wang, Jing;
    • Katsonis, Panagiotis;
    • Hall, Lynn;
    • Reiss, Sara;
    • Eeds, Angela;
    • Willis, Alecia;
    • Yadav, Meeta;
    • Summar, Samantha;
    • Lichtarge, Olivier;
    • Rubio, Vicente;
    • Wong, Lee-Jun;
    • Summar, Marshall
    Publication type:
    Article

  • Type I hyperprolinemia: genotype/phenotype correlations.

    Published in:
    Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296
    By:
    • Guilmatre, Audrey;
    • Legallic, Solenn;
    • Steel, Gary;
    • Willis, Alecia;
    • Di Rosa, Gabriella;
    • Goldenberg, Alice;
    • Drouin-Garraud, Valérie;
    • Guet, Agnès;
    • Mignot, Cyril;
    • Des Portes, Vincent;
    • Valayannopoulos, Vassili;
    • Van Maldergem, Lionel;
    • Hoffman, Jodi D.;
    • Izzi, Claudia;
    • Espil-Taris, Caroline;
    • Orcesi, Simona;
    • Bonafé, Luisa;
    • Le Galloudec, Eric;
    • Maurey, Hélène;
    • Ioos, Christine
    Publication type:
    Article

  • Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
    By:
    • Yaping Yang;
    • Muzny, Donna M.;
    • Fan Xia;
    • Zhiyv Niu;
    • Person, Richard;
    • Yan Ding;
    • Ward, Patricia;
    • Braxton, Alicia;
    • Min Wang;
    • Buhay, Christian;
    • Veeraraghavan, Narayanan;
    • Hawes, Alicia;
    • Chiang, Theodore;
    • Leduc, Magalie;
    • Beuten, Joke;
    • Jing Zhang;
    • Weimin He;
    • Scull, Jennifer;
    • Willis, Alecia;
    • Landsverk, Megan
    Publication type:
    Article

  • Multilocus Analysis of Hypertension: A Hierarchical Approach.

    Published in:
    Human Heredity, 2004, v. 57, n. 1, p. 28, doi. 10.1159/000077387
    By:
    • Williams, Scott M.;
    • Ritchie, Marylyn D.;
    • Phillips III, John A.;
    • Dawson, Elliot;
    • Prince, Melissa;
    • Dzhura, Elvira;
    • Willis, Alecia;
    • Semenya, Amma;
    • Summar, Marshall;
    • White, Bill C.;
    • Addy, Jonathan H.;
    • Kpodonu, John;
    • Wong, Lee-Jun;
    • Felder, Robin A.;
    • Jose, Pedro A.;
    • Moore, Jason H.
    Publication type:
    Article