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- 2018
- Arterial tortuosity syndrome : 40 new families and literature review
- Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review
- 2017
- Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
- arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
- NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
- 2016
- Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
- 2015
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity