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Keyword Connections - genetic diseases Keywords
Connection Type Connection
Journals
The Journal of clinical investigation
Bioinformatics
healthcare informatics research
Translational vision science & technology
clinical neurology and neurosurgery
Research Groups
No Research Group Connected
Bibliographies
[1] Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives.
[2] SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
[3] PPNID: a reference database and molecular identification pipeline for plant-parasitic nematodes.
[4] A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
[5] atypical case of wilson's disease with psychotic onset, low 24 hour urine copper and the absence of kayser-fleischer rings
[6] Electrolyte disorders as a hallmark of monogenetic diseases
[7] Erectile Dysfunction and Peyronie's Disease: Genetic Diseases?
[8] [A qualitative approach to rare genetic diseases: an integrative review of the national and international literature].
[9] Rare Genetic Diseases: Nature's Experiments on Human Development
[10] Congenital absence of pyramids and its significance in genetic diseases
[11] CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases
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