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124 results on '"Cappuccio A"'

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1. Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

2. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

3. Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

8. Lung-protective ventilation during Trendelenburg pneumoperitoneum surgery: A randomized clinical trial

15. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

17. HLA-DRB1 mismatch-based identification of donor-derived cell free DNA (dd-cfDNA) as a marker of rejection in heart transplant recipients: A single-institution pilot study

18. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

19. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

22. Rare and de novo coding variants in chromodomain genes in Chiari I malformation

23. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

28. Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

34. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

37. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

38. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

47. Blood RNA alternative splicing events as diagnostic biomarkers for infectious disease

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