genetic diseases

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1
Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives.
Ayatollahi, Haleh;Hosseini, Seyedeh Fatemeh;Hemmat, Morteza;
2019 healthcare informatics research DOI: 10.4258/hir.2019.25.... 272 views
2
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto, Valentina;Ullah, Farid;Di Meo, Ivano;Magini, Pamela;Gusic, Mirjana;Maresca, Alessandra;Ca...
2020 The Journal of clinical investigation DOI: 10.1172/JCI128514 290 views
3
PPNID: a reference database and molecular identification pipeline for plant-parasitic nematodes.
Qing, Xue;Wang, Meng;Karssen, Gerrit;Bucki, Patricia;Bert, Wim;Braun-Miyara, Sigal;
2020 Bioinformatics DOI: 10.1093/bioinformati... 260 views
4
A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
Bruno, Giorgia;Puoti, Gianfranco;Oliva, Mariano;Colavito, Davide;Allegorico, Lia;Napolitano, Filomen...
2020 clinical neurology and neurosurgery DOI: S0303-8467(20)30030-... 179 views
5
atypical case of wilson's disease with psychotic onset, low 24 hour urine copper and the absence of kayser-fleischer rings
;Krstić Dragan;Antonijević Jadranka;Špirić Željko
2014 applied nursing research : anr DOI: 10.2298/VSP130529049... 220 views

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electronic health records Medical Informatics genetics user requirements ophthalmology mitochondria bioenergetics hypercholesterolemia creatine kinase myalgia caveolin-3 caveolinopathy muscular diseases diagnosis mental disorders copper molecular biology inborn