Works matching IS 14712350 AND DT 2013 AND VI 14 AND IP 1

Results: 128
    1

    Heterozygous FA2H mutations in autism spectrum disorders.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-124
    By:
    • Scheid, Isabelle;
    • Maruani, Anna;
    • Huguet, Guillaume;
    • Leblond, Claire S.;
    • Nygren, Gudrun;
    • Anckarsäter, Henrik;
    • Beggiato, Anita;
    • Rastam, Maria;
    • Fréderique Amsellem;
    • Carina Gillberg, I.;
    • Elmaleh, Monique;
    • Leboyer, Marion;
    • Gillberg, Christopher;
    • Betancur, Catalina;
    • Coleman, Mary;
    • Hama, Hiroko;
    • Cook, Edwin H.;
    • Bourgeron, Thomas;
    • Delorme, Richard
    Publication type:
    Article
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    Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-119
    By:
    • Elhayek, Donia;
    • de Nanclares, Gustavo Perez;
    • Chouchane, Slaheddine;
    • Hamami, Saber;
    • Mlika, Adnène;
    • Troudi, Monia;
    • Leban, Nadia;
    • Romdane, Wafa Ben;
    • Neji Gueddiche, Mohamed;
    • El Amri, Féthi;
    • Mrabet, Samir;
    • Chibani, Jemni Ben;
    • Castaño, Luis;
    • Haj Khelil, Amel;
    • Ariceta, Gema
    Publication type:
    Article
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    Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-113
    By:
    • Sønder Snogdal, Lena;
    • Grarup, Niels;
    • Banasik, Karina;
    • Wod, Mette;
    • Jørgensen, Torben;
    • Witte, Daniel R.;
    • Lauritzen, Torsten;
    • Nielsen, Aneta A.;
    • Brandslund, Ivan;
    • Christensen, Cramer;
    • Pedersen, Oluf;
    • Yderstræde, Knud;
    • Beck-Nielsen, Henning;
    • Henriksen, Jan Erik;
    • Hansen, Torben;
    • Højlund, Kurt
    Publication type:
    Article
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    Genetic mapping of high caries experience on human chromosome 13.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 3, doi. 10.1186/1471-2350-14-116
    By:
    • Küchler, Erika C.;
    • Deeley, Kathleen;
    • Bao Ho;
    • Linkowski, Samantha;
    • Meyer, Chelsea;
    • Noel, Jacqueline;
    • Zahir Kouzbari, M.;
    • Bezamat, Mariana;
    • Granjeiro, José M.;
    • Antunes, Leonardo S.;
    • Antunes, Livia Azeredo;
    • de Abreu, Fernanda Volpe;
    • Costa, Marcelo C.;
    • Tannure, Patricia N.;
    • Seymen, Figen;
    • Koruyucu, Mine;
    • Patir, Asli;
    • Mereb, Juan C.;
    • Castilla, Eduardo E.;
    • Orioli, Ieda M.
    Publication type:
    Article
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    Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 3, doi. 10.1186/1471-2350-14-111
    By:
    • Storm, Tina;
    • Zeitz, Christina;
    • Cases, Olivier;
    • Amsellem, Sabine;
    • Verroust, Pierre J.;
    • Madsen, Mette;
    • Benoist, Jean-François;
    • Passemard, Sandrine;
    • Lebon, Sophie;
    • Jønsson, Iben Møller;
    • Emma, Francesco;
    • Koldsø, Heidi;
    • Hertz, Jens Michael;
    • Nielsen, Rikke;
    • Christensen, Erik I.;
    • Kozyraki, Renata
    Publication type:
    Article
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    Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-98
    By:
    • Fesinmeyer, Megan D.;
    • Meigs, James B.;
    • North, Kari E.;
    • Schumacher, Fredrick R;
    • Bůžková, Petra;
    • Franceschini, Nora;
    • Haessler, Jeffrey;
    • Goodloe, Robert;
    • Spencer, Kylee L.;
    • Voruganti, Venkata Saroja;
    • Howard, Barbara V.;
    • Jackson, Rebecca;
    • Kolonel, Laurence N.;
    • Simin Liu;
    • Manson, JoAnn E.;
    • Monroe, Kristine R.;
    • Mukamal, Kenneth;
    • Dilks, Holli H;
    • Pendergrass, Sarah A.;
    • Nato, Andrew
    Publication type:
    Article
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    ITGB5 and AGFG1 variants are associated with severity of airway responsiveness.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-86
    By:
    • Himes, Blanca E.;
    • Qiu, Weiliang;
    • Klanderman, Barbara;
    • Ziniti, John;
    • Senter-Sylvia, Jody;
    • Szefler, Stanley J.;
    • Lemanske Jr, Robert F.;
    • Zeiger, Robert S.;
    • Strunk, Robert C.;
    • Martinez, Fernando D.;
    • Boushey, Homer;
    • Chinchilli, Vernon M.;
    • Israel, Elliot;
    • Mauger, David;
    • Koppelman, Gerard H.;
    • Nieuwenhuis, Maartje A. E.;
    • Postma, Dirkje S.;
    • Vonk, Judith M.;
    • Rafaels, Nicholas;
    • Hansel, Nadia N.
    Publication type:
    Article
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    Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-77
    By:
    • Kim, Jinsil;
    • Stirling, Kara J.;
    • Cooper, Margaret E.;
    • Ascoli, Mario;
    • Momany, Allison M.;
    • McDonald, Erin L.;
    • Ryckman, Kelli K.;
    • Rhea, Lindsey;
    • Schaa, Kendra L.;
    • Cosentino, Viviana;
    • Gadow, Enrique;
    • Saleme, Cesar;
    • Shi, Min;
    • Hallman, Mikko;
    • Plunkett, Jevon;
    • Kari A.;
    • Muglia, Louis J.;
    • Feenstra, Bjarke;
    • Geller, Frank;
    • Boyd, Heather A.
    Publication type:
    Article
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    Genetics of coronary artery calcification among African Americans, a meta-analysis.

    Published in:
    BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-75
    By:
    • Wojczynski, Mary K.;
    • Li, Mingyao;
    • Bielak, Lawrence F.;
    • Kerr, Kathleen F.;
    • Reiner, Alex P.;
    • Wong, Nathan D.;
    • Yanek, Lisa R.;
    • Qu, Liming;
    • White, Charles C.;
    • Lange, Leslie A.;
    • Ferguson, Jane F.;
    • He, Jing;
    • Young, Taylor;
    • Mosley, Thomas H.;
    • Smith, Jennifer A.;
    • Kral, Brian G.;
    • Guo, Xiuqing;
    • Wong, Quenna;
    • Ganesh, Santhi K.;
    • Heckbert, Susan R.
    Publication type:
    Article