Clinical utility gene card for: Johanson-Blizzard syndrome

被引:2
|
作者
Sukalo, Maja [1 ]
Mayerle, Julia [2 ]
Zenker, Martin [1 ]
机构
[1] Univ Hosp Magdeburg, Inst Human Genet, D-39120 Magdeburg, Germany
[2] Ernst Moritz Arndt Univ Greifswald, Univ Med, Dept Med A, Greifswald, Germany
关键词
UBR1; MUTATION;
D O I
10.1038/ejhg.2013.65
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:152 / 152
页数:3
相关论文
共 50 条
  • [1] Clinical utility gene card for: Johanson–Blizzard syndrome
    Maja Sukalo
    Julia Mayerle
    Martin Zenker
    European Journal of Human Genetics, 2014, 22 : 152 - 152
  • [2] THE JOHANSON-BLIZZARD SYNDROME
    BARAITSER, M
    HODGSON, SV
    JOURNAL OF MEDICAL GENETICS, 1982, 19 (04) : 302 - 303
  • [3] JOHANSON-BLIZZARD SYNDROME
    HURST, JA
    BARAITSER, M
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (01) : 45 - 48
  • [4] Johanson-Blizzard syndrome
    Almashraki, Nabeel
    Abdulnabee, Mukarram Zainuddin
    Sukalo, Maja
    Alrajoudi, Abdullah
    Sharafadeen, Iman
    Zenker, Martin
    WORLD JOURNAL OF GASTROENTEROLOGY, 2011, 17 (37) : 4247 - 4250
  • [5] Johanson-Blizzard Syndrome
    Godbole, Koumudi
    Maja, Sukalo
    Leena, Hiremath
    Martin, Zenker
    INDIAN PEDIATRICS, 2013, 50 (05) : 510 - 512
  • [6] Johanson-Blizzard syndrome
    Kulkarni M.L.
    Shetty S.K.
    Kallambella K.S.
    Kulkarni P.M.
    The Indian Journal of Pediatrics, 2004, 71 (12) : 1127 - 1129
  • [7] Johanson-Blizzard syndrome
    Nabeel Almashraki
    Mukarram Zainuddin Abdulnabee
    Maja Sukalo
    Abdullah Alrajoudi
    Iman Sharafadeen
    Martin Zenker
    World Journal of Gastroenterology, 2011, 17 (37) : 4247 - 4250
  • [8] Johanson-Blizzard syndrome
    Ramos, Sergio
    Ramos, Henrique F.
    Ramos, Rosangela F.
    Peixoto, Carlos A. M.
    Ramos, Bernardo F.
    BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, 2010, 76 (06) : 794 - 794
  • [9] JOHANSON-BLIZZARD SYNDROME AND HYPOPITUITARISM
    KRISTJANSSON, K
    HOFFMAN, WH
    FLANNERY, DB
    COHEN, MJ
    JOURNAL OF PEDIATRICS, 1988, 113 (05): : 851 - 853
  • [10] Eponym: Johanson-Blizzard syndrome
    Rezaei N.
    Sabbaghian M.
    Liu Z.
    Zenker M.
    European Journal of Pediatrics, 2011, 170 (2) : 179 - 183