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Diagnostic value of high-sensitivity troponin T in postmortem diagnosis of sudden cardiac death

Journal of forensic and legal medicine, 2021-02, Vol.78, p.102127-102127, Article 102127

2021

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Rapid Turnover of Stereocilia Membrane Proteins: Evidence from the Trafficking and Mobility of Plasma Membrane Ca2+-ATPase 2

The Journal of neuroscience, 2006-06, Vol.26 (23), p.6386-6395

2006

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A mutation in OTOF , encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Nature genetics, 1999-04, Vol.21 (4), p.363-369

1999

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Rescue from early-onset hearing loss in a mouse model lacking the cyclin-dependent kinase inhibitor p19Ink4d

Cell death & disease, 2016-03, Vol.7 (3), p.e2131-e2131

2016

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OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

American journal of human genetics, 2000-09, Vol.67 (3), p.591-600

2000

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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

Human mutation, 2002-02, Vol.19 (2), p.183-183

2002

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A Naive Lung Adenocarcinoma Harboring G1269A ALK Resistance Mutation

JTO clinical and research reports, 2020-09, Vol.1 (3), p.100047, Article 100047

2020

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DFNB9 and DFNB12

Advances in oto-rhino-laryngology, 2000, Vol.56, p.164-167

2000

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Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

American journal of medical genetics, 2000-01, Vol.90 (1), p.38-44

2000

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Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Nature communications, 2016-03, Vol.7 (1), p.10833-10833, Article 10833

2016

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Spatial pattern and weight of seabed marine litter in the northern and central Adriatic Sea

Marine pollution bulletin, 2015-02, Vol.91 (1), p.120-127

2015

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Comparative study of extra virgin olive oil flavor profile of Koroneiki variety ( Olea europaea var. Microcarpa alba) cultivated in Greece and Tunisia during one period of harvesting

Food science & technology, 2011-06, Vol.44 (5), p.1333-1341

2011

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Mutation of the ATP-gated P2X₂ receptor leads to progressive hearing loss and increased susceptibility to noise

Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (6), p.2228-2233

2013

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Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

Ultrasound in obstetrics & gynecology, 2012-04, Vol.39 (4), p.384-388

2012

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Authentication of Tunisian virgin olive oils by chemometric analysis of fatty acid compositions and NIR spectra. Comparison with Maghrebian and French virgin olive oils

Food chemistry, 2015-04, Vol.173, p.122-132

2015

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Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

Genetics in medicine, 2014-08, Vol.16 (8), p.620-624

2014

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X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases

The Journal of immunology (1950), 2005-07, Vol.175 (1), p.575-578

2005

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Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (4), p.597-602

2021

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Misbehaviour of XIST RNA in breast cancer cells

PloS one, 2009-05, Vol.4 (5), p.e5559-e5559

2009

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Frequency of monosomy X in women with primary biliary cirrhosis

The Lancet (British edition), 2004-02, Vol.363 (9408), p.533-535

2004

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A new simplex chemometric approach to identify olive oil blends with potentially high traceability

Food chemistry, 2016-10, Vol.208, p.150-160

2016

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Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Epigenetics, 2010-05, Vol.5 (4), p.313-324

2010

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Diagnostic value of high-sensitivity troponin T in postmortem diagnosis of sudden cardiac death

Rapid Turnover of Stereocilia Membrane Proteins: Evidence from the Trafficking and Mobility of Plasma Membrane Ca2+-ATPase 2

A mutation in OTOF , encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Rescue from early-onset hearing loss in a mouse model lacking the cyclin-dependent kinase inhibitor p19Ink4d

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

A Naive Lung Adenocarcinoma Harboring G1269A ALK Resistance Mutation

DFNB9 and DFNB12

Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like

Spatial pattern and weight of seabed marine litter in the northern and central Adriatic Sea

Comparative study of extra virgin olive oil flavor profile of Koroneiki variety ( Olea europaea var. Microcarpa alba) cultivated in Greece and Tunisia during one period of harvesting

Mutation of the ATP-gated P2X₂ receptor leads to progressive hearing loss and increased susceptibility to noise

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

Authentication of Tunisian virgin olive oils by chemometric analysis of fatty acid compositions and NIR spectra. Comparison with Maghrebian and French virgin olive oils

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases

Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

Misbehaviour of XIST RNA in breast cancer cells

The seascape of demersal fish nursery areas in the North Mediterranean Sea, a first step towards the implementation of spatial planning for trawl fisheries

Frequency of monosomy X in women with primary biliary cirrhosis

A new simplex chemometric approach to identify olive oil blends with potentially high traceability

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

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