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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Human mutation, 2007-04, Vol.28 (4), p.416-416

2007

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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

American journal of human genetics, 2009-04, Vol.84 (4), p.493-498

2009

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Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1

Journal of Virology, 2000-03, Vol.74 (6), p.2525-2532

2000

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Nature genetics, 2012-09, Vol.44 (9), p.975-977

2012

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

American journal of human genetics, 2012-05, Vol.90 (5), p.864-870

2012

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The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene

Investigative ophthalmology & visual science, 2011-06, Vol.52 (7), p.4678-4684

2011

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Human mutation, 2007-01, Vol.28 (1), p.81-91

2007

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TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

Biochimica et biophysica acta, 2013-06, Vol.1830 (6), p.3719-3733

2013

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Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

Molecular vision, 2009-12, Vol.15, p.2960-2972

2009

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Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Human mutation, 2010-03, Vol.31 (3), p.E1241-E1250

2010

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Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.352-356

2012

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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

Human mutation, 2007-12, Vol.28 (12), p.1245-1245

2007

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Population history and infrequent mutations : how old is a rare mutation? GUCY2D as a worked example

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.115-123

2008

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A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors

AIDS (London), 2005-11, Vol.19 (16), p.1922-1924

2005

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Treatment interruption after one year of triple nucleoside analogue therapy for primary HIV infection

AIDS (London), 2001-01, Vol.15 (2), p.275-277

2001

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Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure

Clinical microbiology and infection, 2004-02, Vol.10 (2), p.127-136

2004

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Le génotypage de résistance du VIH

Revue française des laboratoires, 2004, Vol.2004 (359), p.54-55

Delphin, Nathalie

2004

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Intérêt du séquençage dans le diagnostic virologique : application au VIH et au VHC

Revue française des laboratoires, 1999-06, Vol.1999 (314), p.39-44

1999

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Inhibitory Effect of IL-1β on HBV and HDV Replication and HBs Antigen-Dependent Modulation of Its Secretion by Macrophages

Viruses, 2022-01, Vol.14 (1), p.65

2022

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Hepatitis B virus-induced modulation of liver macrophage function promotes hepatocyte infection

Journal of hepatology, 2019-12, Vol.71 (6), p.1086-1098

2019

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Transforming a paediatric ICU to an adult ICU for severe Covid-19: lessons learned

European journal of pediatrics, 2021-07, Vol.180 (7), p.2319-2323

2021

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Efficiency of different control measures for preventing carbapenemase-producing enterobacteria and glycopeptide-resistant Enterococcus faecium outbreaks: a 6-year prospective study in a French multihospital institution, January 2010 to December 2015

Euro surveillance : bulletin européen sur les maladies transmissibles, 2018-02, Vol.23 (8), p.16-23

2018

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Assessing Avian-Wind Turbine Collision Risk: An Approach Angle Dependent Model

Wind engineering, 2011-06, Vol.35 (3), p.289-312

2011

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The SCD-Well randomized controlled trial: Effects of a mindfulness-based intervention versus health education on mental health in patients with subjective cognitive decline (SCD)

Alzheimer's & dementia : translational research & clinical interventions, 2018, Vol.4 (1), p.737-745

2018

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Toute la cour était étonnée: Madame de Maintenon ou l’ambition politique au féminin

2022

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

Population history and infrequent mutations : how old is a rare mutation? GUCY2D as a worked example

A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors

Treatment interruption after one year of triple nucleoside analogue therapy for primary HIV infection

Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure

Le génotypage de résistance du VIH

Intérêt du séquençage dans le diagnostic virologique : application au VIH et au VHC

Inhibitory Effect of IL-1β on HBV and HDV Replication and HBs Antigen-Dependent Modulation of Its Secretion by Macrophages

Hepatitis B virus-induced modulation of liver macrophage function promotes hepatocyte infection

Transforming a paediatric ICU to an adult ICU for severe Covid-19: lessons learned

Efficiency of different control measures for preventing carbapenemase-producing enterobacteria and glycopeptide-resistant Enterococcus faecium outbreaks: a 6-year prospective study in a French multihospital institution, January 2010 to December 2015

Assessing Avian-Wind Turbine Collision Risk: An Approach Angle Dependent Model

The SCD-Well randomized controlled trial: Effects of a mindfulness-based intervention versus health education on mental health in patients with subjective cognitive decline (SCD)

Toute la cour était étonnée: Madame de Maintenon ou l’ambition politique au féminin

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