Clinical utility gene card for: Biotinidase deficiency—update 2015

被引：0
|
作者：
Sébastien Küry
Vincent Ramaekers
Stéphane Bézieau
Barry Wolf
机构：
[1] CHU Nantes,Centre of Autism Liège and Division of Pediatric Neurology
[2] Service de Génétique Médicale,Department of Research Administration
[3] University Hospital Liège,undefined
[4] Henry Ford Hospital,undefined
[5] Center for Molecular Medicine and Genetics,undefined
[6] Wayne State University,undefined
来源：
European Journal of Human Genetics | 2016年 / 24卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：3 / 5
页数：2
相关论文
共 50 条
  • [41] Clinical utility gene card for: α-1-antitrypsin deficiency
    Sabina Janciauskiene
    Ilaria Ferrarotti
    Florian Laenger
    Danny Jonigk
    Maurizio Luisetti
    European Journal of Human Genetics, 2011, 19 : 615 - 615
  • [42] Clinical utility gene card for: α-1-antitrypsin deficiency
    Janciauskiene, Sabina
    Ferrarotti, Ilaria
    Laenger, Florian
    Jonigk, Danny
    Luisetti, Maurizio
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (05) : 615a - 615
  • [43] Clinical utility gene card for: Alström Syndrome - update 2013
    Jan D Marshall
    Pietro Maffei
    Sebastian Beck
    Timothy G Barrett
    Richard Paisey
    Jürgen K Naggert
    European Journal of Human Genetics, 2013, 21 : 3 - 4
  • [44] Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013
    Adrianna Vlachos
    Niklas Dahl
    Irma Dianzani
    Jeffrey M Lipton
    European Journal of Human Genetics, 2013, 21 : 1187 - 1187
  • [45] Clinical utility gene card for: Lesch–Nyhan Syndrome - update 2013
    Rosa J Torres
    Juan G Puig
    Irène Ceballos-Picot
    European Journal of Human Genetics, 2013, 21 : 1187 - 1187
  • [46] Clinical utility gene card for: Diamond - Blackfan anemia - update 2013
    Vlachos, Adrianna
    Dahl, Niklas
    Dianzani, Irma
    Lipton, Jeffrey M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) : 1187 - 1187
  • [47] Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - Update 2014
    Burnett, John R.
    Bell, Damon A.
    Hooper, Amanda J.
    Hegele, Robert A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (06) : e1 - e3
  • [48] Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014
    John R Burnett
    Damon A Bell
    Amanda J Hooper
    Robert A Hegele
    European Journal of Human Genetics, 2015, 23 : 889 - 889
  • [49] Clinical utility gene card for: Lesch-Nyhan syndrome - update 2013
    Torres, Rosa J.
    Puig, Juan G.
    Ceballos-Picot, Irene
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) : 1187 - 1187
  • [50] Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update
    Abdullah Aamir
    Helen J. Kuht
    Karen Grønskov
    Brian P. Brooks
    Mervyn G. Thomas
    European Journal of Human Genetics, 2021, 29 : 1577 - 1583
12345