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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Clinical genetics·2017

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.

Neuropathology and applied neurobiology·2016

A case report of AA amyloidosis associated with familial periodic fever syndrome diagnosed after kidney transplantation: never say never.

Transplantation proceedings·2013

NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association.

Lupus·2012

Prevalence of SOD1 mutations in the Italian ALS population.

Neurology·2008

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.

Journal of neurology, neurosurgery, and psychiatry·2007

Polycystic ovary syndrome, amenorrhea and the diagnostic role of anti-Müllerian hormone.

Minerva endocrinologica·2021

Effects of Mediterranean diet on semen parameters in healthy young adults: a randomized controlled trial.

Minerva endocrinologica·2021

Codon bias analyses on thyroid carcinoma genes.

Minerva endocrinologica·2020

The possible role of endocrine dysfunction of adipose tissue in gestational diabetes mellitus.

Minerva endocrinologica·2020

Male hypogonadism: therapeutic choices and pharmacological management.

Minerva endocrinologica·2020

Vitamin D3 deficiency is associated with more severe insulin resistance and metformin use in patients with type 2 diabetes.

Minerva endocrinologica·2020

Molecular Prevalence of Human Astrovirus Among Children Under Five Years of Age With Gastroenteritis in Ilorin Metropolis, North-Central Nigeria: A Cross-Sectional Study.

Health science reports·2026

Downregulation of alcohol dehydrogenase family proteins suggests disrupted retinol metabolism in neonatal respiratory distress syndrome: an umbilical cord blood proteomics study.

Frontiers in pediatrics·2026

Navigating neonatal thrombosis: contemporary insights into a complex disorder in a unique population.

Frontiers in pharmacology·2026

Safety and surgical outcomes of sodium fluorescein-guided pediatric brain tumor surgery: a retrospective before-and-after single-center cohort study.

Frontiers in surgery·2026

Comparison of outcomes of open, laparoscopic, and robot-assisted laparoscopic pyeloplasty in children with pelviureteric junction obstruction: a systematic review and meta-analysis.

Translational andrology and urology·2026

Neurological Assessment Tools and Inflammatory Biomarkers for Predicting Cerebral Palsy in Neonatal HIE.

Pediatrics international : official journal of the Japan Pediatric Society·2026

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[Prenatal diagnosis of the congenital adrenogenital syndrome]

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.

A case report of AA amyloidosis associated with familial periodic fever syndrome diagnosed after kidney transplantation: never say never.

NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association.

Prevalence of SOD1 mutations in the Italian ALS population.

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.

Polycystic ovary syndrome, amenorrhea and the diagnostic role of anti-Müllerian hormone.

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Codon bias analyses on thyroid carcinoma genes.

The possible role of endocrine dysfunction of adipose tissue in gestational diabetes mellitus.

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Molecular Prevalence of Human Astrovirus Among Children Under Five Years of Age With Gastroenteritis in Ilorin Metropolis, North-Central Nigeria: A Cross-Sectional Study.

Downregulation of alcohol dehydrogenase family proteins suggests disrupted retinol metabolism in neonatal respiratory distress syndrome: an umbilical cord blood proteomics study.

Navigating neonatal thrombosis: contemporary insights into a complex disorder in a unique population.

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Comparison of outcomes of open, laparoscopic, and robot-assisted laparoscopic pyeloplasty in children with pelviureteric junction obstruction: a systematic review and meta-analysis.

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[Prenatal diagnosis of the congenital adrenogenital syndrome]

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