| Titolo |
Pubblicato in |
Anno |
| Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis |
EUROPEAN JOURNAL OF HUMAN GENETICS |
2024 |
| Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction |
JOURNAL OF DENTAL SCIENCES |
2024 |
| “Neurodevelopmental outcome of a child with UPD(16)mat: A case report” |
GLOBAL PEDIATRICS |
2024 |
| First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures |
EUROPEAN JOURNAL OF HUMAN GENETICS |
2024 |
| Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort |
ANNALS OF LABORATORY MEDICINE |
2024 |
| Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review |
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
2024 |
| Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules |
GENETICS IN MEDICINE |
2024 |
| EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report |
ULTRASOUND IN OBSTETRICS & GYNECOLOGY |
2024 |
| Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2023 |
| Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review |
JOURNAL OF CLINICAL ULTRASOUND |
2023 |
| A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy |
CURRENT ISSUES IN MOLECULAR BIOLOGY |
2023 |
| Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
FRONTIERS IN CARDIOVASCULAR MEDICINE |
2023 |
| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome |
EUROPEAN JOURNAL OF HUMAN GENETICS |
2023 |
| Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 |
JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA |
2023 |
| Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients |
BRITISH JOURNAL OF HAEMATOLOGY |
2023 |
| Prenatal CFAP53-related laterality defect: case report and review of the literature |
THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE |
2023 |
| The role of genetic testing in suspected fulminant myocarditis: A case report |
MOLECULAR GENETICS AND METABOLISM REPORTS |
2023 |
| Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility |
BIOMEDICINES |
2023 |
| Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management |
JOURNAL OF CLINICAL ULTRASOUND |
2023 |
| Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region |
GENES |
2023 |
