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Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up

Journal of epidemiology, 2021-02, Vol.31 (2), p.157-163

2021

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Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique

PloS one, 2021-03, Vol.16 (3), p.e0247603-e0247603

2021

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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Haematologica (Roma), 2022-03, Vol.107 (3), p.750-754

2022

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Ex Vivo Molecular Rejuvenation Improves the Therapeutic Activity of Senescent Human Cardiac Stem Cells in a Mouse Model of Myocardial Infarction

Stem cells (Dayton, Ohio), 2014-09, Vol.32 (9), p.2373-2385

2014

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Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.42-47

2014

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Genetics of Food Preferences: A First View from Silk Road Populations

Journal of food science, 2012-12, Vol.77 (12), p.S413-S418

2012

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Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

Pediatric rheumatology online journal, 2021-05, Vol.19 (1), p.70-70, Article 70

2021

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The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Genes, 2022-03, Vol.13 (3), p.500

2022

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Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.170-176

2014

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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

PloS one, 2012-08, Vol.7 (8), p.e43799-e43799

2012

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Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Gene, 2013-03, Vol.516 (1), p.122-125

2013

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Systematic analysis of factors that improve homologous direct repair

PloS one, 2021-03, Vol.16 (3), p.e0247603

2021

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MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype

Journal of pediatric gastroenterology and nutrition, 2022-05, Vol.74 (5), p.e115-e121

2022

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MYO5B Gene Mutations

Journal of pediatric gastroenterology and nutrition, 2022-05, Vol.74 (5), p.e115-e121

2022

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Genomic instability in congenital lung malformations in children

Pediatric surgery international, 2024-09, Vol.40 (1), p.248, Article 248

2024

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Could the MED13 mutations manifest as a Kabuki‐like syndrome?

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.584-590

2021

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Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy

Biotechnic & histochemistry, 2020-11, Vol.95 (8), p.634-640

2020

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The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells

Oncotarget, 2017-08, Vol.8 (35), p.59235-59245

2017

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A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples

Genome, 2017-02, Vol.60 (2), p.183-192

2017

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A 3′UTR SNP in NLRP3 Gene is Associated With Susceptibility to HIV-1 Infection

Journal of acquired immune deficiency syndromes (1999), 2010-07, Vol.54 (3), p.236-240

2010

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Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration

Oncology reports, 2016-05, Vol.35 (5), p.3094-3100

2016

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A technical application of quantitative next generation sequencing for chimerism evaluation

Molecular medicine reports, 2016-10, Vol.14 (4), p.2967-2974

2016

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Proteins involved in oxidative stress in leiomyoma tissues treated with ulipristal acetate

Molecular medicine reports, 2021-01, Vol.23 (1), p.1-1

2021

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F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

Clinical and experimental rheumatology, 2014-11, Vol.32 (6), p.993

2014

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Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

Gene, 2013-05, Vol.521 (1), p.160-165

2013

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Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up

Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Ex Vivo Molecular Rejuvenation Improves the Therapeutic Activity of Senescent Human Cardiac Stem Cells in a Mouse Model of Myocardial Infarction

Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

Genetics of Food Preferences: A First View from Silk Road Populations

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Systematic analysis of factors that improve homologous direct repair

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype

MYO5B Gene Mutations

Genomic instability in congenital lung malformations in children

Could the MED13 mutations manifest as a Kabuki‐like syndrome?

Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy

The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells

A semi-nested real-time PCR method to detect low chimerism percentage in small quantity of hematopoietic stem cell transplant DNA samples

A 3′UTR SNP in NLRP3 Gene is Associated With Susceptibility to HIV-1 Infection

Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration

A technical application of quantitative next generation sequencing for chimerism evaluation

Proteins involved in oxidative stress in leiomyoma tissues treated with ulipristal acetate

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

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