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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Genetics in medicine, 2024-08, p.101241, Article 101241

2024

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease

American journal of human genetics, 2024-07, Vol.111 (7), p.1271-1281

2024

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Radiomic Gradient in Peritumoural Tissue of Liver Metastases: A Biomarker for Clinical Practice? Analysing Density, Entropy, and Uniformity Variations with Distance from the Tumour

Diagnostics (Basel), 2024-07, Vol.14 (14), p.1552

2024

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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

Clinical genetics, 2024-06

2024

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Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review

Frontiers in endocrinology (Lausanne), 2024-04, Vol.15, p.1349000

2024

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Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient

Digestive and liver disease, 2024-04, Vol.56 (4), p.711-712

2024

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Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3586

2024

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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Journal of clinical immunology, 2024-02, Vol.44 (2), p.60-60, Article 60

2024

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Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.82-87

2024

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Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature

The journal of maternal-fetal & neonatal medicine, 2023-12, Vol.36 (2), p.2232075-2232075

2023

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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Genes, 2023-09, Vol.14 (9), p.1817

2023

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Expanding the Natural History of ISNORD118/I-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Genes, 2023-09, Vol.14 (9)

2023

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KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

Italian journal of pediatrics, 2023-08, Vol.49 (1), p.1-99, Article 99

2023

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De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1973-1977

2023

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De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

American journal of medical genetics. Part A, 2023, Vol.191 (7), p.1973-1977

2023

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Violence against Women and Stress-Related Disorders: Seeking for Associated Epigenetic Signatures, a Pilot Study

Healthcare (Basel), 2023-01, Vol.11 (2), p.173

2023

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Mosaic Williams syndrome: A case report

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.249-252

2023

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Towards Digital Twins of buildings and smart energy networks: Current and future trends

2023 IEEE International Workshop on Metrology for Living Environment (MetroLivEnv), 2023, p.96-101

2023

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Mosaic Williams syndrome: A case report

American journal of medical genetics. Part A, 2023, Vol.191 (1), p.249-252

2023

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A perspective on diet, epigenetics and complex diseases: where is the field headed next?

Epigenomics, 2022-10, Vol.14 (20), p.1281-1304

2022

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EP09.03: Obliterated cavum septum pellucidum: a normal variant?

Ultrasound in obstetrics & gynecology, 2022-09, Vol.60 (S1), p.121-121

2022

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Primary TSC2 -/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

International journal of molecular sciences, 2022-08, Vol.23 (17), p.9713

2022

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Frontiers in genetics, 2022-08, Vol.13, p.875182-875182

2022

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Radiomic Gradient in Peritumoural Tissue of Liver Metastases: A Biomarker for Clinical Practice? Analysing Density, Entropy, and Uniformity Variations with Distance from the Tumour

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review

Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Expanding the Natural History of ISNORD118/I-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

Violence against Women and Stress-Related Disorders: Seeking for Associated Epigenetic Signatures, a Pilot Study

Mosaic Williams syndrome: A case report

Quick spreading of the exotic amphipod Laticorophium baconi (Shoemaker, 1934): another small stowaway overlooked?

Towards Digital Twins of buildings and smart energy networks: Current and future trends

O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients

Mosaic Williams syndrome: A case report

A perspective on diet, epigenetics and complex diseases: where is the field headed next?

EP09.03: Obliterated cavum septum pellucidum: a normal variant?

Primary TSC2 -/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

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