Genotype-phenotype correlation analysis in GNE myopathy

被引:0
|
作者
Pogoryelova, O. [1 ]
Cammish, P. [1 ]
Mansbach, H. [2 ]
Lochmuller, H. [1 ]
机构
[1] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
[2] Ultragenyx Pharmaceut Inc, Novato, CA USA
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
OD13
引用
收藏
页码:S41 / S41
页数:1
相关论文
共 50 条
  • [21] Genotype-phenotype correlation in Down syndrome
    Trivino, E
    Sierra, C
    Dolade, M
    Navarro, E
    Brandi, N
    Mira, A
    Cabre, E
    Martin, S
    Pastor, MC
    Crespo, M
    SeresSantamaria, A
    Gimenez, C
    CYTOGENETICS AND CELL GENETICS, 1997, 77 : 22 - 23
  • [22] GENOTYPE-PHENOTYPE CORRELATION IN HEREDITARY SPHEROCYTOSIS
    Olmedo A, Lobo
    Del Orbe Barreto, R. A.
    Pampliega M, Vara
    Del Castillo L, Aranguren
    Varela M, Alonso
    Berganza P, Arana
    Garcia Ruiz, J. C.
    HAEMATOLOGICA, 2021, 106 (10) : 109 - 110
  • [23] BIOTINIDASE DEFICIENCY: A GENOTYPE-PHENOTYPE CORRELATION
    Daoud, Ghaleb
    Karam, Pascale
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 252 - 253
  • [24] Nephronophthisis: A review of genotype-phenotype correlation
    Luo, Fenglan
    Tao, Yu-Hong
    NEPHROLOGY, 2018, 23 (10) : 904 - 911
  • [25] Genotype-phenotype correlation in hypertrophic cardiomyopathy
    Castella, A.
    Spoladore, R.
    D'amato, R.
    Benedetti, S.
    Di Resta, C.
    Ferrari, M.
    Olivotto, I.
    Camici, P. G.
    EUROPEAN JOURNAL OF HEART FAILURE, 2013, 12 : S169 - S169
  • [26] Genotype-Phenotype Correlation in Trichilemmal Cysts
    Yousaf, Ahmed
    Tallman, Rachel
    Katzman, Steven
    Brady, Chad
    Fang, Wei
    Kolodney, Michael S.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2021, 141 (12) : 2983 - +
  • [27] Genotype-Phenotype Correlation in Lung Adenocarcinoma
    Klepeis, V. E.
    Mark, E. G.
    Dias-Santagata, D.
    Iafrate, A. J.
    Mino-Kenudson, M.
    MODERN PATHOLOGY, 2010, 23 : 406A - 406A
  • [28] Genotype-Phenotype correlation in BSND disorder
    Jeck, N.
    Konrad, M.
    Klaus, G.
    Waldegger, S.
    PEDIATRIC NEPHROLOGY, 2009, 24 (04) : 906 - 906
  • [29] α-thalassaemia: a genotype-phenotype correlation and management
    Viprakasit, V.
    STATE OF THE ART PRESENTATIONS 33RD INTERNATIONAL CONGRESS OF THE INTERNATIONAL SOCIETY OF BLOOD TRANSFUSION, IN CONJUNCTION WITH THE 33RD CONGRESS OF THE KSBT AND 2014 CONGRESS OF THE KOREAN HEMATOLOGY SOCIETIES, VOL 10, NO S1, 2015, 10 (S1): : 295 - 304
  • [30] Primary hyperoxaluria: Genotype-phenotype correlation
    Pirulli, D
    Marangella, M
    Amoroso, A
    JOURNAL OF NEPHROLOGY, 2003, 16 (02) : 297 - 309