Similar Items: Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients
- Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature
- Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review
- Image-based phenotyping of faba bean genetic resources for water deficit responses under controlled conditions
- Return of a Fragile X Syndrome Genetic Result: Exploring the feedback of Individual genetic findings and their relation to traditional knowledge in a village in Cameroon
- Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review