Keyword Connections

genetic diseases

Journals

5

1 The Journal of clinical investigation

2 Bioinformatics

3 healthcare informatics research

4 Translational vision science & technology

5 clinical neurology and neurosurgery

Research Groups

0

No Research Group Connected

Bibliographies

11

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