Related Experiment Videos
Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy
Clinical Chemistry
|July 1, 1992
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022
Thoracic ultrasound accuracy for the investigation of initial neonatal respiratory distress.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2019
Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist.
Respiratory medicine and research·2019
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2018
Life-threatening hemorrhage after zygomatic bone surgery. About 2 posttraumatic cases.
Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie orale·2016
Optimal Positive Control Assays for Methylation-Specific PCR.
Clinical chemistry·2026
Clinical Utility and Diagnostic Performance of (1→3)-β-D-Glucan in Invasive Mycoses.
Clinical chemistry·2026
Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.
Clinical chemistry·2026
Extending Quality Control Procedures for Multiplexed Clinical Assays.
Clinical chemistry·2026