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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Nature genetics, 2009-06, Vol.41 (6), p.654-656

2009

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The thermal regime of the Campi Flegrei magmatic system reconstructed through 3D numerical simulations

Journal of volcanology and geothermal research, 2016-12, Vol.328, p.210-221

2016

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Nature genetics, 2006-05, Vol.38 (5), p.570-575

2006

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Quantifying probabilities of volcanic events: The example of volcanic hazard at Mount Vesuvius

Journal of Geophysical Research - Solid Earth, 2004-11, Vol.109 (B11), p.B11201-n/a

2004

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A genome‐wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population

Journal of periodontal research, 2018-12, Vol.53 (6), p.992-998

2018

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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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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Nature genetics, 2000-05, Vol.25 (1), p.14-15

2000

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Regulatory evaluation of Glybera in Europe - two committees, one mission

Nature reviews. Drug discovery, 2013-09, Vol.12 (9), p.719-719

2013

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Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

Neurobiology of aging, 2013-08, Vol.34 (8), p.2077.e1-2077.e9

2013

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature genetics, 2001-02, Vol.27 (2), p.159-166

2001

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Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Human mutation, 2000-09, Vol.16 (3), p.190-202

2000

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

The Lancet (British edition), 1998-02, Vol.351 (9100), p.394-398

1998

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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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A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

Heart rhythm, 2012-10, Vol.9 (10), p.1627-1634

2012

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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Nature genetics, 1999-09, Vol.23 (1), p.16-18

1999

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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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Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

Biochemical and biophysical research communications, 2006-03, Vol.341 (4), p.950-957

2006

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The Status of Earthquake Early Warning around the World: An Introductory Overview

Seismological research letters, 2009-09, Vol.80 (5), p.682-693

2009

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Are taste variations associated with the liking of sweetened and unsweetened coffee?

Physiology & behavior, 2022-02, Vol.244, p.113655-113655, Article 113655

2022

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Basic principles of multi-risk assessment: a case study in Italy

Natural hazards (Dordrecht), 2012-06, Vol.62 (2), p.551-573

2012

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Gamma-Ray Spectrometry of Rocks

2013

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Hearing loss: frequency and functional studies of the most common connexin26 alleles

Biochemical and biophysical research communications, 2002-08, Vol.296 (3), p.685-691

2002

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Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity

International archives of allergy and immunology, 2020-09, Vol.181 (9), p.727-731

2020

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SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

The thermal regime of the Campi Flegrei magmatic system reconstructed through 3D numerical simulations

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Quantifying probabilities of volcanic events: The example of volcanic hazard at Mount Vesuvius

A genome‐wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population

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

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Regulatory evaluation of Glybera in Europe - two committees, one mission

Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

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

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

The Status of Earthquake Early Warning around the World: An Introductory Overview

Are taste variations associated with the liking of sweetened and unsweetened coffee?

Basic principles of multi-risk assessment: a case study in Italy

Gamma-Ray Spectrometry of Rocks

Hearing loss: frequency and functional studies of the most common connexin26 alleles

Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity

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