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Workload measurement for molecular genetics laboratory: A survey study

PloS one, 2018-11, Vol.13 (11), p.e0206855-e0206855

2018

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Can paranasal sinus computed tomography screen for cystic fibrosis heterozygotes?

Panminerva medica, 2022-03, Vol.64 (1), p.116

2022

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Ion concentrations in nasal airway surface liquid: a prediction model for the identification of cystic fibrosis carriers

Rhinology, 2021-01, Vol.59 (5), p.470-474

2021

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Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

Neuromuscular disorders : NMD, 2016-10, Vol.26 (10), p.662-665

2016

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A rare case of Hemoglobin Leiden interfering with the DIFF channel of Sysmex XE-2100

Scandinavian journal of clinical and laboratory investigation, 2015-09, Vol.75 (5), p.436-437

2015

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Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography

Hemoglobin, 2016-06, Vol.40 (3), p.143-149

2016

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Genetic counseling for women referred for advanced maternal age: a telegenetic approach

Genetics in medicine, 2014-10, Vol.16 (10), p.795-795

2014

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Hb Belluno [ β 111(G13)Val→Gly; β 133(H11)Val→Val ( HBB : c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A 1c Determination by High Performance Liquid Chromatography

Hemoglobin, 2016-05, Vol.40 (3), p.143-149

2016

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New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation

Genetic testing and molecular biomarkers, 2014-12, Vol.18 (12), p.839-844

2014

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EMQN Best Practice Guidelines for molecular genetic testing of SCAs

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1173-1176

2010

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A Family with γ-Thalassemia and High Hb A 2 Levels

Hemoglobin, 2016-05, Vol.40 (3), p.187-190

2016

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Novel mutations in the SLC26A4 gene

International journal of pediatric otorhinolaryngology, 2012-09, Vol.76 (9), p.1249-1254

2012

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Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy

Blood transfusion = Trasfusione del sangue, 2013-04, Vol.11 (2), p.245-249

2013

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The high oxygen affinity haemoglobin Nantes: a family case description

Blood transfusion = Trasfusione del sangue, 2015-07, Vol.13 (3), p.524-527

2015

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A Family with γ-Thalassemia and High Hb A2 Levels

Hemoglobin, 2016-06, Vol.40 (3), p.187-190

2016

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Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin

Hemoglobin, 2014-10, Vol.38 (5), p.369-372

2014

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β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection

Clinical chemistry (Baltimore, Md.), 2004, Vol.50 (1), p.73-79

2004

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Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.959-964

2005

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Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR

Human mutation, 2001-07, Vol.18 (1), p.70-81

2001

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DESIGNER EDUCACIONAL: DESAFIOS E PERSPECTIVAS EM UMA PROPOSTA DE FORMAÇÃO CONTINUADA DE PROFESSORES

Revista Docência e Cibercultura, 2020-12, Vol.4 (3), p.434-452

2020

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The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey

Genetic testing, 2008-06, Vol.12 (2), p.279-288

2008

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Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories

Prenatal diagnosis, 2006-10, Vol.26 (10), p.989-991

2006

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{beta}-Thalassemia Microelectronic Chip: A Fast and Accurate Method for Mutation Detection

Clinical chemistry (Baltimore, Md.), 2004-01, Vol.50 (1), p.73

2004

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Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry

Nephrology, dialysis, transplantation, 2014-09, Vol.29 Suppl 4 (suppl 4), p.iv1-iv8

2014

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Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

Clinical journal of the American Society of Nephrology, 2013-01, Vol.8 (1), p.67-74

2013

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Workload measurement for molecular genetics laboratory: A survey study

Can paranasal sinus computed tomography screen for cystic fibrosis heterozygotes?

Ion concentrations in nasal airway surface liquid: a prediction model for the identification of cystic fibrosis carriers

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

A rare case of Hemoglobin Leiden interfering with the DIFF channel of Sysmex XE-2100

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography

Genetic counseling for women referred for advanced maternal age: a telegenetic approach

Hb Belluno [ β 111(G13)Val→Gly; β 133(H11)Val→Val ( HBB : c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A 1c Determination by High Performance Liquid Chromatography

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

A Family with γ-Thalassemia and High Hb A 2 Levels

Novel mutations in the SLC26A4 gene

Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy

The high oxygen affinity haemoglobin Nantes: a family case description

A Family with γ-Thalassemia and High Hb A2 Levels

Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin

β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR

DESIGNER EDUCACIONAL: DESAFIOS E PERSPECTIVAS EM UMA PROPOSTA DE FORMAÇÃO CONTINUADA DE PROFESSORES

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey

Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories

{beta}-Thalassemia Microelectronic Chip: A Fast and Accurate Method for Mutation Detection

Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry

Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

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