507 research outputs found
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
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NEUROWES PROJECT: FROM WHOLE EXOME SEQUENCING DATA ANALYSIS TO FUNCTIONAL CHARACTERIZATION OF NOVEL NDD-ASSOCIATED GENES
Get PDFPossible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Get PDFClinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Get PDFBlepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
Get PDFExpanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Get PDFCUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
Get PDFThe crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
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