PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 6 results sorted by: Most RecentSee all results in PubMed (6)
An extremely high blood glucose level in a child with hyperglycemic hyperosmolar state and type 1 diabetes.
J Pediatr Endocrinol Metab. 2021. PMID: 33939902
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Mol Genet Genomic Med. 2021. PMID: 33486889 Free PMC article.
Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.
BMC Med Genomics. 2018. PMID: 29368655 Free PMC article.
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Sci Rep. 2017. PMID: 28860541 Free PMC article.
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.
AJNR Am J Neuroradiol. 2010. PMID: 19942698 Free PMC article. Clinical Trial.