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Phenotypic spectrum associated with CASK loss-of-function mutations

Journal of medical genetics, 2011-11, Vol.48 (11), p.741-751

2011

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Vitamin D: do we get enough?: A discussion between vitamin D experts in order to make a step towards the harmonisation of dietary reference intakes for vitamin D across Europe

Osteoporosis international, 2013-05, Vol.24 (5), p.1567-1577

2013

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Andexanet for Factor Xa Inhibitor–Associated Acute Intracerebral Hemorrhage

The New England journal of medicine, 2024-05, Vol.390 (19), p.1745-1755

2024

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Biological Knee Reconstruction for Combined Malalignment, Meniscal Deficiency, and Articular Cartilage Disease

Arthroscopy, 2015-02, Vol.31 (2), p.275-282

2015

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American journal of human genetics, 2018-11, Vol.103 (5), p.786-793

2018

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Lack of the metabotropic glutamate receptor subtype 7 selectively impairs short-term working memory but not long-term memory

Behavioural brain research, 2004-10, Vol.154 (2), p.473-481

2004

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Factors governing prepulse inhibition and prepulse facilitation of the acoustic startle response in mice

Behavioural brain research, 2004-07, Vol.152 (2), p.403-412

2004

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Effects of sex and estrous cycle on modulation of the acoustic startle response in mice

Physiology & behavior, 2005-03, Vol.84 (4), p.585-594

2005

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Early onset seizures and Rett-like features associated with mutations in CDKL5

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1113-1120

2005

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Keratinocytes Regulate the Threshold of Inflammation by Inhibiting T Cell Effector Functions

Cells (Basel, Switzerland), 2021-06, Vol.10 (7), p.1606

2021

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Further delineation of the KAT6B molecular and phenotypic spectrum

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170

2015

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Design and Analysis of Simulation Experiments

Statistics and Simulation, 2018, Vol.231, p.3-22

2018

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Basin effects on ground motion: the case of a high-resolution experiment in Cephalonia (Greece)

Bulletin of earthquake engineering, 2018-02, Vol.16 (2), p.529-560

2018

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Propensity Score-matched Analysis Comparing Robotic Versus Laparoscopic Minor Liver Resections of the Anterolateral Segments: an International Multi-center Study of 10,517 Cases

Annals of surgery, 2024-09

2024

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High interindividual variability in the CD4/CD8 T cell ratio and natalizumab concentration levels in the cerebrospinal fluid of patients with multiple sclerosis

Clinical and experimental immunology, 2015-06, Vol.180 (3), p.383-392

2015

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Plasma atrial natriuretic peptide and brain natriuretic peptide are increased in septic shock: impact of interleukin-6 and sepsis-associated left ventricular dysfunction

Intensive care medicine, 2003-10, Vol.29 (10), p.1696-1702

2003

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Heterogeneity of treatment effect of vilobelimab in COVID-19: a secondary analysis of a randomised controlled trial

Critical care (London, England), 2024-06, Vol.28 (1), p.210, Article 210

2024

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American journal of human genetics, 2018-12, Vol.103 (6), p.1054-1055

2018

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Anti-IL-23 preferentially inhibits pathogenic T H 17 cells

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, Vol.143 (5), p.S8

2023

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P103Short-term repeated remote ischemic conditioning effect on post-infarct myocardial function: the importance of neuregulin-1

Cardiovascular research, 2018-04, Vol.114 (suppl_1), p.S27-S27

2018

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Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

Circulation (New York, N.Y.), 2003-03, Vol.107 (10), p.1390-1395

2003

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Immunoglobulin G treatment of postcardiac surgery patients with score-identified severe systemic inflammatory response syndrome—The ESSICS study

Critical care medicine, 2008-03, Vol.36 (3), p.716-723

2008

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Phenotypic spectrum associated with CASK loss-of-function mutations

Vitamin D: do we get enough?: A discussion between vitamin D experts in order to make a step towards the harmonisation of dietary reference intakes for vitamin D across Europe

Andexanet for Factor Xa Inhibitor–Associated Acute Intracerebral Hemorrhage

Biological Knee Reconstruction for Combined Malalignment, Meniscal Deficiency, and Articular Cartilage Disease

Anti-C5a antibody (vilobelimab) therapy for critically ill, invasively mechanically ventilated patients with COVID-19 (PANAMO): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Lack of the metabotropic glutamate receptor subtype 7 selectively impairs short-term working memory but not long-term memory

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Factors governing prepulse inhibition and prepulse facilitation of the acoustic startle response in mice

Effects of sex and estrous cycle on modulation of the acoustic startle response in mice

Early onset seizures and Rett-like features associated with mutations in CDKL5

Keratinocytes Regulate the Threshold of Inflammation by Inhibiting T Cell Effector Functions

Further delineation of the KAT6B molecular and phenotypic spectrum

Design and Analysis of Simulation Experiments

Basin effects on ground motion: the case of a high-resolution experiment in Cephalonia (Greece)

Propensity Score-matched Analysis Comparing Robotic Versus Laparoscopic Minor Liver Resections of the Anterolateral Segments: an International Multi-center Study of 10,517 Cases

High interindividual variability in the CD4/CD8 T cell ratio and natalizumab concentration levels in the cerebrospinal fluid of patients with multiple sclerosis

Plasma atrial natriuretic peptide and brain natriuretic peptide are increased in septic shock: impact of interleukin-6 and sepsis-associated left ventricular dysfunction

Heterogeneity of treatment effect of vilobelimab in COVID-19: a secondary analysis of a randomised controlled trial

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Anti-IL-23 preferentially inhibits pathogenic T H 17 cells

Risk factors and outcomes of conversions in robotic and laparoscopic liver resections: A nationwide analysis

P103Short-term repeated remote ischemic conditioning effect on post-infarct myocardial function: the importance of neuregulin-1

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

Immunoglobulin G treatment of postcardiac surgery patients with score-identified severe systemic inflammatory response syndrome—The ESSICS study

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