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1. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

2. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

4. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

6. miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma

7. miRNA-221 and miRNA-483-3p Dysregulation Correlated with Poor Survival in Esophageal Adenocarcinoma

9. Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease

10. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

12. Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

14. Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

15. Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso

17. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

19. #5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT

20. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

24. Integrating structural variant calling, annotation and prioritization into whole genome analysis workflows: a practical application in the molecular diagnosis of neurodevelopmental disorders

25. Behavioral profiling in children and adolescents with Malan syndrome

28. Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

29. Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association

30. Supplementary informations and figures from Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

31. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

33. Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

35. Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1

36. Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

38. Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

39. Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

41. A machine learning based method to detect genomic imbalances exploiting X chromosome exome reads

42. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

44. Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

45. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

47. Additional file 1 of A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

48. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

50. SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor

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