Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

被引:1
|
作者
Thompson, Miles D. [1 ]
机构
[1] Toronto Western Hosp, Krembil Brain Inst, 399 Bathurst St, Toronto, ON M5T 2S8, Canada
关键词
NEUROLOGIC DEFICIT; MENTAL-RETARDATION; HYPERPHOSPHATASIA; SEIZURES;
D O I
10.3390/genes15060715
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [1] Rare Diseases and molecular genetic Diagnostics
    Hoffmann, G. F.
    Zepp, F.
    MONATSSCHRIFT KINDERHEILKUNDE, 2017, 165 (03) : 200 - 201
  • [2] Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil
    Acosta, A. X.
    Abe-Sandes, K.
    Giugliani, R.
    Bittles, A. H.
    JOURNAL OF GENETIC COUNSELING, 2013, 22 (06) : 830 - 834
  • [3] Improving diagnostics of rare genetic diseases with NGS approaches
    Mateja Vinkšel
    Karin Writzl
    Aleš Maver
    Borut Peterlin
    Journal of Community Genetics, 2021, 12 : 247 - 256
  • [4] Improving diagnostics of rare genetic diseases with NGS approaches
    Vinksel, Mateja
    Writzl, Karin
    Maver, Ales
    Peterlin, Borut
    JOURNAL OF COMMUNITY GENETICS, 2021, 12 (02) : 247 - 256
  • [5] Genetic analyses and counseling. Rare diseases in prenatal methane
    Moog, U.
    Dikow, N.
    Gaspar, H.
    Behnecke, A.
    Schenk, J. P.
    Flechtenmacher, C.
    Beedgen, B.
    Elsaesser, M.
    GYNAKOLOGE, 2012, 45 (05): : 376 - 382
  • [6] Improved Detection of Rare Genetic Variants for Diseases
    Zhang, Lei
    Pei, Yu-Fang
    Li, Jian
    Papasian, Christopher J.
    Deng, Hong-Wen
    PLOS ONE, 2010, 5 (11):
  • [7] Challenges and opportunities for discovering the biology of rare genetic diseases of the brain
    Padinjat Raghu
    Yojet Sharma
    Aswathy Bhuvanendran Nair Suseela Devi
    Harini Krishnan
    Journal of Biosciences, 49
  • [8] Challenges and opportunities for discovering the biology of rare genetic diseases of the brain
    Raghu, Padinjat
    Sharma, Yojet
    Devi, Aswathy Bhuvanendran Nair Suseela
    Krishnan, Harini
    JOURNAL OF BIOSCIENCES, 2024, 49 (01)
  • [9] Diagnostics and treatment of neuromusuclar disorders - a role model for rare diseases?
    Schoser, Benedikt
    CURRENT OPINION IN NEUROLOGY, 2018, 31 (05) : 565 - 567
  • [10] Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases
    Panayiota Papasavva
    Marina Kleanthous
    Carsten W. Lederer
    Molecular Diagnosis & Therapy, 2019, 23 : 201 - 222