Search

Your search keyword '"Digilio, Maria Cristina"' showing total 987 results

Search Constraints

Start Over You searched for: Author "Digilio, Maria Cristina" Remove constraint Author: "Digilio, Maria Cristina"
987 results on '"Digilio, Maria Cristina"'

Search Results

51. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

52. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

53. Genetics of Ebstein Anomaly

54. Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2Variant Associated with Overgrowth and Minor Neurodevelopmental Features

55. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2DVUS and sensitivity in validating postzygotic mosaicism

56. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis

58. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

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

61. Epilepsy in KBG syndrome

62. Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review

66. Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

69. Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant

70. Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

72. Epilepsy in KBG syndrome.

76. Expanding the novelMAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

78. Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature

79. Poster PT Noonan REV 24 ago JPG

81. Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?

82. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

83. Congenital heart defects in molecularly confirmed KBG syndrome patients

84. Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height

85. Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests

89. 1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

91. Selection of Endophytic Beauveria bassiana as a Dual Biocontrol Agent of Tomato Pathogens and Pests

93. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

98. Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

100. Zucchini Plants Alter Gene Expression and Emission of (E)-β-Caryophyllene Following Aphis gossypii Infestation

Catalog

Books, media, physical & digital resources