Related Experiment Videos
Clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta
Journal of Medical Genetics
|August 1, 1986
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.
The British journal of dermatology·2019
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.
Clinical and experimental dermatology·2016
Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome.
Clinical and experimental dermatology·2013
Multidetector CT angiography in diagnosing type I and type IVA spinal vascular malformations.
AJNR. American journal of neuroradiology·2006
Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.
Journal of medical genetics·2026
Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.
Journal of medical genetics·2026
Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.
Journal of medical genetics·2026
Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.
Journal of medical genetics·2026
Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.
Journal of medical genetics·2026
Experimental and theoretical investigation of a 5-iodo-6-methyluracil derivative as a key intermediate for Elagolix synthesis: crystal structure, Hirshfeld surface analysis and DFT calculations.
Acta crystallographica. Section C, Structural chemistry·2026
Simple and Efficient Automated Radiosynthesis of 1-[18F]-IPA Using Solid-Phase Extraction Cartridges Purification.
Journal of labelled compounds & radiopharmaceuticals·2026
The razABCD regulatory island links azalomycin F biosynthesis in Streptomyces iranensis to orsellinic acid production in the fungus Aspergillus nidulans.
The Journal of biological chemistry·2026