elfride documents

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Documents Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Documents Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Documents Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Heterozygous Coding ZNF469 Variants Enriched in New Zealand Patients With Isolated Keratoconus
Documents Heterozygous Coding ZNF469 Variants Enriched in New Zealand Patients With Isolated Keratoconus
Correlation of pncA Sequence with Pyrazinamide Resistance Level in BACTEC™ for 21 Mycobacterium tuberculosis Clinical Isolates
Documents Correlation of pncA Sequence with Pyrazinamide Resistance Level in BACTEC™ for 21 Mycobacterium tuberculosis Clinical Isolates
Deciphering the cis -Regulatory Landscape of SOX9 Implicated in Craniofacial Development and Isolated Pierre Robin Sequence
Documents Deciphering the cis -Regulatory Landscape of SOX9 Implicated in Craniofacial Development and Isolated Pierre Robin Sequence