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Sabrina Giglio

University of Florence
University of Pavia

175

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3314

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Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression

2021 Pediatric Neurosurgery
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Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

2021 Nephrology Dialysis Transplantation
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P0077A NEW MUTATION OF DNAJB11 AS A CAUSE OF CYSTIC KYDNEY DISEASE: THE FOURTH GENE OF ADPKD

2020 Nephrology Dialysis Transplantation
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Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

2020 Ophthalmic Genetics
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Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

2020 American Journal of Medical Genetics Part A
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Genetic counseling during COVID-19 pandemic: Tuscany experience.

2020 Molecular Genetics & Genomic Medicine
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Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

2020 International Journal of Developmental Neuroscience
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Aberrant Sialylation in a Patient with a HNF1α Variant and Liver Adenomatosis

2020
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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

2020 Journal of Medical Genetics
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Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells

2020 Science Translational Medicine
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Citations (47)