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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Journal of medical genetics, 2011-12, Vol.48 (12), p.825-830

2011

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Long-range regulation at the SOX9 locus in development and disease

Journal of Medical Genetics, 2009-10, Vol.46 (10), p.649-656

2009

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Nod1 and Nod2 in innate immunity and human inflammatory disorders

Biochemical Society transactions, 2007-12, Vol.35 (Pt 6), p.1479-1484

2007

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Randomized, controlled trial of miglustat in Gaucher's disease type 3

Annals of neurology, 2008-11, Vol.64 (5), p.514-522

2008

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The hyperfluidization of mammalian cell membranes acts as a signal to initiate the heat shock protein response

The FEBS journal, 2005-12, Vol.272 (23), p.6077-6086

2005

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CSF and Blood Levels of GFAP in Alexander Disease

eNeuro, 2015-09, Vol.2 (5), p.ENEURO.0080-15.2015

2015

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

Neuropediatrics, 2022-04, Vol.53 (2), p.115-121

2022

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Continuous infusion versus intermittent administration of ceftazidime in critically ill patients with suspected gram-negative infections

Antimicrobial Agents and Chemotherapy, 1996-03, Vol.40 (3), p.691-695

1996

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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Neurology, 2008-03, Vol.70 (12), p.976-978

2008

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Membrane Physical State Controls the Signaling Mechanism of the Heat Shock Response in Synechocystis PCC 6803: Identification of hsp17 as a ``Fluidity Gene

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (7), p.3513-3518

1998

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The NLRP3 inflammasome - interleukin 1 pathway as a therapeutic target in gout

Archives of biochemistry and biophysics, 2019-07, Vol.670, p.82-93

2019

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Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics

JAMA network open, 2019-08, Vol.2 (8), p.e199364-e199364

2019

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Appointment completion in pediatric neurology telemedicine clinics serving underserved patients

Neurology. Clinical practice, 2019-08, Vol.9 (4), p.314-321

2019

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34 Our Growing Challenge: Urban Emergency Department Workplace Violence Based on Gender, Healthcare Role, and Barriers to Reporting

Annals of emergency medicine, 2023-10, Vol.82 (4), p.S14-S15

2023

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Cardiorespiratory effects of naloxone in children

The Annals of pharmacotherapy, 2003-11, Vol.37 (11), p.1587-1592

2003

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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning

Archives of cardiovascular diseases supplements, 2023-01, Vol.15 (1), p.116

2023

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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning

Archives of cardiovascular diseases supplements, 2022-09, Vol.14 (3-4), p.240

2022

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A network for the conservation of agrobiodiversity of local ecotypes

Acta horticulturae, 2016 (1142), p.163-170

2016

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Transient receptor potential vanilloid-1 signaling inhibits differentiation and activation of human dendritic cells

FEBS letters, 2009-05, Vol.583 (10), p.1619-1624

2009

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Free sialic acid storage disease without sialuria

Annals of neurology, 2009-06, Vol.65 (6), p.753-757

2009

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Sigmoid Th17 populations, the HIV latent reservoir, and microbial translocation in men on long-term antiretroviral therapy

AIDS (London), 2011-03, Vol.25 (6), p.741-749

2011

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Current situation of greenhouse vegetable production in Greece

Acta horticulturae, 2016 (1142), p.443-448

2016

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Calibration methodology of a hyperspectral imaging system for greenhouse plant water status assessment

Acta horticulturae, 2016 (1142), p.119-126

2016

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The influence of nitrogen fertilization on growth, yield, nitrate and oxalic acid concentration in purslane ( Portulaca oleracea )

Acta horticulturae, 2016 (1142), p.299-304

2016

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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Long-range regulation at the SOX9 locus in development and disease

Nod1 and Nod2 in innate immunity and human inflammatory disorders

Randomized, controlled trial of miglustat in Gaucher's disease type 3

The hyperfluidization of mammalian cell membranes acts as a signal to initiate the heat shock protein response

CSF and Blood Levels of GFAP in Alexander Disease

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

Continuous infusion versus intermittent administration of ceftazidime in critically ill patients with suspected gram-negative infections

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Membrane Physical State Controls the Signaling Mechanism of the Heat Shock Response in Synechocystis PCC 6803: Identification of hsp17 as a ``Fluidity Gene

The NLRP3 inflammasome - interleukin 1 pathway as a therapeutic target in gout

Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics

Appointment completion in pediatric neurology telemedicine clinics serving underserved patients

34 Our Growing Challenge: Urban Emergency Department Workplace Violence Based on Gender, Healthcare Role, and Barriers to Reporting

Cardiorespiratory effects of naloxone in children

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning

Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning

A network for the conservation of agrobiodiversity of local ecotypes

Transient receptor potential vanilloid-1 signaling inhibits differentiation and activation of human dendritic cells

Free sialic acid storage disease without sialuria

Sigmoid Th17 populations, the HIV latent reservoir, and microbial translocation in men on long-term antiretroviral therapy

Current situation of greenhouse vegetable production in Greece

Calibration methodology of a hyperspectral imaging system for greenhouse plant water status assessment

The influence of nitrogen fertilization on growth, yield, nitrate and oxalic acid concentration in purslane ( Portulaca oleracea )

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