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Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies

Mediterranean journal of hematology and infectious diseases, 2009-11, Vol.1 (1), p.e2009011-e2009011

2009

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Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.600-607

2017

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Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin

Prenatal diagnosis, 2015-05, Vol.35 (5), p.506-508

2015

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AIRE acetylation and deacetylation: effect on protein stability and transactivation activity

Journal of biomedical science, 2014-08, Vol.21 (1), p.85-85, Article 85

2014

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Multiplex genotyping of CYP3A4, CYP3A5, CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry

Pharmacogenomics, 2010-04, Vol.11 (4), p.559-571

2010

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Multiplex genotyping of

Pharmacogenomics, 2010-04, Vol.11 (4), p.559-571

2010

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PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

Mediterranean journal of hematology and infectious diseases, 2009-06, Vol.1 (1), p.e2009011-e2009011

2009

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The cerebellar GABAA α6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

Brain research, 2004-02, Vol.998 (2), p.148-154

2004

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The cerebellar GABAA alpha6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

Brain research, 2004-02, Vol.998 (2), p.148

2004

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The cerebellar GABA A α 6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

Brain research, 2004, Vol.998 (2), p.148-154

2004

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Characterization of wild-type (R100R) and mutated (Q100Q) GABAA α6 subunit in Sardinian alcohol non-preferring rats (sNP)

Brain research, 2003-03, Vol.967 (1-2), p.98-105

2003

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Characterization of wild-type (R100R) and mutated (Q100Q) GABA A α 6 subunit in Sardinian alcohol non-preferring rats (sNP)

Brain research, 2003, Vol.967 (1), p.98-105

2003

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Five mutations in the GABAA α6 gene 5' flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats

Brain research. Molecular brain research., 2005-06, Vol.137 (1-2), p.252-257

2005

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Characterization of wild-type (R100R) and mutated (Q100Q) GABAA alpha 6 subunit in Sardinian alcohol non-preferring rats (sNP)

Brain research, 2003-03, Vol.967 (1-2), p.98-105

2003

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Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats

Brain research. Molecular brain research., 2005-06, Vol.137 (1-2), p.252

2005

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Five mutations in the GABA A α6 gene 5′ flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats

Brain research. Molecular brain research., 2005, Vol.137 (1), p.252-257

2005

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Molecular characterization of new polymorphisms at the β2, α1, γ2 GABAA receptor subunit genes associated to a rat nonpreferring ethanol phenotype

Brain research. Molecular brain research., 2003-02, Vol.110 (2), p.289-297

2003

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Molecular diagnosis and carrier screening for beta thalassemia

JAMA : the journal of the American Medical Association, 1997-10, Vol.278 (15), p.1273

1997

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Molecular characterization of new polymorphisms at the beta2, alpha1, gamma2 GABA(A) receptor subunit genes associated to a rat nonpreferring ethanol phenotype

Brain research. Molecular brain research., 2003-02, Vol.110 (2), p.289

2003

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Molecular characterization of new polymorphisms at the β2, α1, γ2 GABA A receptor subunit genes associated to a rat nonpreferring ethanol phenotype

Brain research. Molecular brain research., 2003, Vol.110 (2), p.289-297

2003

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THE REPEATED SEQUENCE (AT)X(T)Y UPSTREAM TO THE β-GLOBIN GENE IS A SIMPLE POLYMORPHISM

Blood, 1993-04, Vol.81 (7), p.1974-1975

1993

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Homozygous β‐thalassaemia resulting in the β‐thalassaemia carrier state phenotype

British journal of haematology, 1994-11, Vol.88 (3), p.562-565

1994

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Promoter mutations producing mild β‐thalassaemia in the Italian population

British journal of haematology, 1992-02, Vol.80 (2), p.222-226

1992

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Base Sequence
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Molecular Sequence Data
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Beta-Thalassemia - Genetics
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Biological And Medical Sciences
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Cerebellum
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Ethanol - Pharmacology
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Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies

Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin

AIRE acetylation and deacetylation: effect on protein stability and transactivation activity

Multiplex genotyping of CYP3A4, CYP3A5, CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry

Multiplex genotyping of

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

The cerebellar GABAA α6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

The cerebellar GABAA alpha6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

The cerebellar GABA A α 6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA α6 subunit in Sardinian alcohol non-preferring rats (sNP)

Characterization of wild-type (R100R) and mutated (Q100Q) GABA A α 6 subunit in Sardinian alcohol non-preferring rats (sNP)

Five mutations in the GABAA α6 gene 5' flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA alpha 6 subunit in Sardinian alcohol non-preferring rats (sNP)

Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats

Five mutations in the GABA A α6 gene 5′ flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats

Molecular characterization of new polymorphisms at the β2, α1, γ2 GABAA receptor subunit genes associated to a rat nonpreferring ethanol phenotype

Molecular diagnosis and carrier screening for beta thalassemia

Molecular characterization of new polymorphisms at the beta2, alpha1, gamma2 GABA(A) receptor subunit genes associated to a rat nonpreferring ethanol phenotype

Molecular characterization of new polymorphisms at the β2, α1, γ2 GABA A receptor subunit genes associated to a rat nonpreferring ethanol phenotype

THE REPEATED SEQUENCE (AT)X(T)Y UPSTREAM TO THE β-GLOBIN GENE IS A SIMPLE POLYMORPHISM

Homozygous β‐thalassaemia resulting in the β‐thalassaemia carrier state phenotype

Promoter mutations producing mild β‐thalassaemia in the Italian population

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