[Steinert's dystrophia myotonica . Epidemiological and clinical aspects]

Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.

Molecular neurobiology·2018

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

Carbohydrate polymers·2014

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

European journal of neurology·2013

Intense focal expression of vascular endothelial growth-factor messenger-RNA in human intracranial neoplasms - association with regions of necrosis.

International journal of oncology·2011

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Clinical genetics·2009

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Journal of medical genetics·2009

Developmental and behavioral profile in a domestic adoptees sample: a new challenge for the pediatrician.

Minerva pediatrica·2020

A new approach to the diagnosis of short stature.

Minerva pediatrica·2020

Kounis Syndrome: a pediatric perspective.

Minerva pediatrica·2020

Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane.

Minerva pediatrica·2020

Tall stature in children and adolescents.

Minerva pediatrica·2020

Precocious puberty.

Minerva pediatrica·2020

Role of Social Determinants of Health in Risk Prediction Models for ST-Segment-Elevation Myocardial Infarction Death: A Registry-Based Study.

Journal of the American Heart Association·2026

Impact of social deprivation on cancer occurrence and cardiovascular events in systemic sclerosis.

Rheumatology advances in practice·2026

Current Practices and Perspectives on Video Capsule Endoscopy in Germany: Findings from a nationwide survey of gastroenterologists.

Zeitschrift fur Gastroenterologie·2026

Neighborhood Socioeconomic Status and Heart Failure or All-Cause Readmission Within a Municipal Hospital System.

JACC. Advances·2026

The association between social determinants of health and Parkinson's disease prevalence among U.S. adults: A cross-sectional study.

Parkinsonism & related disorders·2026

Immigrant life expectancy and disability-free life expectancy by detailed country of birth in England and Wales: A total population, repeated cross-sectional approach.

PloS one·2026

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[Steinert's dystrophia myotonica . Epidemiological and clinical aspects]

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Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

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A new approach to the diagnosis of short stature.

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Precocious puberty.

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Current Practices and Perspectives on Video Capsule Endoscopy in Germany: Findings from a nationwide survey of gastroenterologists.

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