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List of works by Paolo Ghirri

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

scientific article published on 13 April 2016

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

scientific article

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

scientific article published on 01 August 2011

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

scientific article published on 06 September 2019

A novel simulator for mechanical ventilation in newborns: MEchatronic REspiratory System SImulator for Neonatal Applications

scientific article published in August 2015

Comparative performances analysis of neonatal ventilators.

scientific article

Compensatory feto-placental upregulation of the nitric oxide system during fetal growth restriction.

scientific article

Correlation between placental histopathology and fetal/neonatal outcome: chorioamnionitis and funisitis are associated to intraventricular haemorrage and retinopathy of prematurity in preterm newborns

scientific article published on 08 June 2010

Disorders of Sexual Development

article

Drug addiction during pregnancy: correlations between the placental health and the newborn's outcome - elaboration of a predictive score

scientific article

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

scientific article published on 17 February 2013

Endocrine Diseases of Newborn

ExtraUterine Growth Restriction (EUGR) in Preterm Infants: Growth Patterns, Nutrition, and Epigenetic Markers. A Pilot Study

Hand movements at 3 months predict later hemiplegia in term infants with neonatal cerebral infarction

scientific article published on 23 October 2009

Hypothyroxinemia in extremely low birth weight infants.

scientific article

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome ⬇️

scientific article published on October 12, 2010

Iodine supplementation in the newborn

scientific article published on 20 January 2014

Low birth weight for gestational age associates with reduced glucose concentrations at birth, infancy and childhood

scientific article published on 25 October 2006

Lutein administration to pregnant women with gestational diabetes mellitus is associated to a decrease of oxidative stress in newborns

scientific article published on 28 June 2013

Lutein and Neurodevelopment in Preterm Infants.

scientific article published on 07 September 2016

MEchatronic REspiratory System SImulator for Neonatal Applications (MERESSINA) project: a novel bioengineering goal

scientific article published on 08 August 2013

Massage accelerates brain development and the maturation of visual function

scientific article

Measuring Cot-Side the Effects of Parenteral Nutrition on Preterm Cortical Function

scientific article published on 17 March 2020

Mineral homeostasis in late preterm infants

Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

scientific article published on 24 March 2010

New techniques in the study of the brain development in newborn

scientific article

Newborn hearing screening protocol in tuscany region.

scientific article published on 20 September 2017

Nutrition, epigenetic markers and growth in preterm infants

scientific article published on 16 December 2019

Plasma cortisol and ACTH levels in 416 VLBW preterm infants during the first month of life: distribution in the AGA/SGA population

scientific article published on 08 May 2019

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

scientific article published on 13 July 2016

Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study

scientific article published on 27 June 2009

Role of OPRM1, clinical and anthropometric variants in neonatal pain reduction ⬇️

scientific article published on 27 April 2020

Role of oxidative stress, genome damage and DNA methylation as determinants of pathological conditions in the newborn: an overview from conception to early neonatal stage

scientific article published on 26 December 2019

Serum cortisol concentrations during induced hypothermia for perinatal asphyxia are associated with neurological outcome in human infants

scientific article published on 29 December 2014

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

scientific article published on June 2008

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.

scientific article

The effects of preterm infant massage on brain electrical activity

scientific article published in September 2011

Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.

scientific article published on 11 February 2017

Universal neonatal audiological screening: experience of the University Hospital of Pisa

scientific article

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