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Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion

Pediatric surgery international, 2018-07, Vol.34 (7), p.807-812

2018

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Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

World journal of gastroenterology : WJG, 2008-07, Vol.14 (28), p.4454-4461

2008

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Early Identification of Cardiovascular Involvement in Patients With β-Thalassemia Major

The American journal of cardiology, 2013-10, Vol.112 (8), p.1246-1251

2013

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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Human mutation, 2003-06, Vol.21 (6), p.622-629

2003

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Correlation of s-IgA and IL-6 Salivary with Caries Disease and Oral Hygiene Parameters in Children

Dentistry journal, 2019-12, Vol.8 (1), p.3

2019

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NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared

Renal failure, 2012-05, Vol.34 (4), p.495-498

2012

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Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2270-2273

2009

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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

European journal of pediatrics, 2003-10, Vol.162 (10), p.727-728

2003

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Pain in neonatal intensive care: role of melatonin as an analgesic antioxidant

Journal of pineal research, 2012-04, Vol.52 (3), p.291-295

2012

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Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children

Allergy and asthma proceedings, 2007-11, Vol.28 (6), p.667-670

2007

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Age and sex prevalence estimate of Joubert syndrome in Italy

Neurology, 2020-02, Vol.94 (8)

2020

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Disomy of distal Xq in males: Case report and overview

American journal of medical genetics. Part A, 2004-07, Vol.128A (2), p.165-169

2004

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Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1

American journal of medical genetics, 2004-03, Vol.125A (2), p.216-218

2004

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Early Identification of Cardiovascular Involvement in Patients With ?-Thalassemia Major

The American journal of cardiology, 2013-10, Vol.112 (8), p.1246

2013

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Oxidative stress and persistent pulmonary hypertension of the newborn treated with inhaled nitric oxide and different oxygen concentrations

The journal of maternal-fetal & neonatal medicine, 2012-09, Vol.25 (9), p.1723-1726

2012

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Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

American journal of human genetics, 2003-09, Vol.73 (3), p.663-670

2003

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On the use of conventional and tissue Doppler echocardiography in patients with β-Thalassemia major and myocardial iron-overload: Preliminary data by a single centre study

International journal of cardiology, 2010-12, Vol.145 (3), p.490-492

2010

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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

Pediatric research, 2004-12, Vol.56 (6), p.988-993

2004

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Increased protein carbonyl groups in the serum of patients affected by thalassemia major

Annals of hematology, 2006-08, Vol.85 (8), p.520-522

2006

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Cutis laxa in Kabuki make-up syndrome

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S247-S251

2005

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What Syndrome Is This?

Pediatric dermatology, 2007-05, Vol.24 (3), p.309-312

2007

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What syndrome is this? Kabuki make-up syndrome

Pediatric dermatology, 2007-05, Vol.24 (3), p.309-312

2007

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Kakubi ùake-up syndrome

Pediatric dermatology, 2007, Vol.24 (3), p.309-312

2007

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Report of a third family with Oliver syndrome

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.159-161

2005

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Clostridium baratii bacteremia associated with Kawasaki syndrome. First case report

The New microbiologica, 2007-10, Vol.30 (4), p.481-484

2007

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Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Early Identification of Cardiovascular Involvement in Patients With β-Thalassemia Major

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

Correlation of s-IgA and IL-6 Salivary with Caries Disease and Oral Hygiene Parameters in Children

NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

Pain in neonatal intensive care: role of melatonin as an analgesic antioxidant

Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children

Age and sex prevalence estimate of Joubert syndrome in Italy

Disomy of distal Xq in males: Case report and overview

Hallerman-Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1

Early Identification of Cardiovascular Involvement in Patients With ?-Thalassemia Major

Oxidative stress and persistent pulmonary hypertension of the newborn treated with inhaled nitric oxide and different oxygen concentrations

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

On the use of conventional and tissue Doppler echocardiography in patients with β-Thalassemia major and myocardial iron-overload: Preliminary data by a single centre study

Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies

Increased protein carbonyl groups in the serum of patients affected by thalassemia major

Cutis laxa in Kabuki make-up syndrome

What Syndrome Is This?

What syndrome is this? Kabuki make-up syndrome

Kakubi ùake-up syndrome

Report of a third family with Oliver syndrome

Clostridium baratii bacteremia associated with Kawasaki syndrome. First case report

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