Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 3

Results: 20
    1

    Rare LRP6 Variants Identified in Spina Bifida Patients.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 342, doi. 10.1002/humu.22750
    By:
    • Lei, Yunping;
    • Fathe, Kristin;
    • McCartney, Danielle;
    • Zhu, Huiping;
    • Yang, Wei;
    • Ross, M. Elizabeth;
    • Shaw, Gary M.;
    • Finnell, Richard H.
    Publication type:
    Article
    2

    Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
    By:
    • Caciotti, Anna;
    • Tonin, Rodolfo;
    • Rigoldi, Miriam;
    • Ferri, Lorenzo;
    • Catarzi, Serena;
    • Cavicchi, Catia;
    • Procopio, Elena;
    • Donati, Maria Alice;
    • Ficcadenti, Anna;
    • Fiumara, Agata;
    • Barone, Rita;
    • Garavelli, Livia;
    • Rocco, Maja Di;
    • Filocamo, Mirella;
    • Antuzzi, Daniela;
    • Scarpa, Maurizio;
    • Mooney, Sean D.;
    • Li, Biao;
    • Skouma, Anastasia;
    • Bianca, Sebastiano
    Publication type:
    Article
    3
    4
    5

    Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 369, doi. 10.1002/humu.22754
    By:
    • Hazlewood, Ralph J.;
    • Roos, Benjamin R.;
    • Solivan‐Timpe, Frances;
    • Honkanen, Robert A.;
    • Jampol, Lee M.;
    • Gieser, Stephen C.;
    • Meyer, Kacie J.;
    • Mullins, Robert F.;
    • Kuehn, Markus H.;
    • Scheetz, Todd E.;
    • Kwon, Young H.;
    • Alward, Wallace L.M.;
    • Stone, Edwin M.;
    • Fingert, John H.
    Publication type:
    Article
    6
    7
    8
    9
    10

    Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 301, doi. 10.1002/humu.22743
    By:
    • Saunders, Carol J.;
    • Moon, Sung Ho;
    • Liu, Xinping;
    • Thiffault, Isabelle;
    • Coffman, Keith;
    • LePichon, Jean‐Baptiste;
    • Taboada, Eugenio;
    • Smith, Laurie D.;
    • Farrow, Emily G.;
    • Miller, Neil;
    • Gibson, Margaret;
    • Patterson, Melanie;
    • Kingsmore, Stephen F.;
    • Gross, Richard W.
    Publication type:
    Article
    11
    12

    Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 327, doi. 10.1002/humu.22745
    By:
    • Kagawa, Tatehiro;
    • Oka, Akira;
    • Kobayashi, Yoshinao;
    • Hiasa, Yoichi;
    • Kitamura, Tsuneo;
    • Sakugawa, Hiroshi;
    • Adachi, Yukihiko;
    • Anzai, Kazuya;
    • Tsuruya, Kota;
    • Arase, Yoshitaka;
    • Hirose, Shunji;
    • Shiraishi, Koichi;
    • Shiina, Takashi;
    • Sato, Tadayuki;
    • Wang, Ting;
    • Tanaka, Masayuki;
    • Hayashi, Hideki;
    • Kawabe, Noboru;
    • Robinson, Peter N.;
    • Zemojtel, Tomasz
    Publication type:
    Article
    13

    Gene Conversion Between Cationic Trypsinogen ( PRSS1) and the Pseudogene Trypsinogen 6 ( PRSS3P2) in Patients with Chronic Pancreatitis.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 350, doi. 10.1002/humu.22747
    By:
    • Rygiel, Agnieszka Magdalena;
    • Beer, Sebastian;
    • Simon, Peter;
    • Wertheim‐Tysarowska, Katarzyna;
    • Oracz, Grzegorz;
    • Kucharzik, Torsten;
    • Tysarowski, Andrzej;
    • Niepokój, Katarzyna;
    • Kierkus, Jarosław;
    • Jurek, Marta;
    • Gawliński, Paweł;
    • Poznański, Jarosław;
    • Bal, Jerzy;
    • Lerch, Markus M.;
    • Sahin‐Tóth, Miklós;
    • Weiss, Frank Ulrich
    Publication type:
    Article
    14
    15
    16
    17
    18

    Contents.

    Published in:
    2015
    Publication type:
    Other
    19

    Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 307, doi. 10.1002/humu.22738
    By:
    • Narasimhan, Vijayashankaranarayanan;
    • Hjeij, Rim;
    • Vij, Shubha;
    • Loges, Niki Tomas;
    • Wallmeier, Julia;
    • Koerner‐Rettberg, Cordula;
    • Werner, Claudius;
    • Thamilselvam, Surin Kumar;
    • Boey, Adrian;
    • Choksi, Semil P.;
    • Pennekamp, Petra;
    • Roy, Sudipto;
    • Omran, Heymut
    Publication type:
    Article
    20