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1. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

3. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

4. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

5. Correction: Value-based preoperative assessment in a large academic hospital

6. Value-based preoperative assessment in a large academic hospital

7. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

8. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

9. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

11. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

12. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

13. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

14. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

15. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

16. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

17. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

18. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

19. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

20. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

22. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

24. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

25. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

26. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

27. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

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

31. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

32. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

33. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

34. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

35. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

37. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

38. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

39. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

40. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

42. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

43. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

44. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

45. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

46. Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

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

48. Scientific Investigation on Movable Cultural Heritage

49. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

50. Minimally invasive extracorporeal circulation in end-stage coronary artery disease patients undergoing myocardial revascularization

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