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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253
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- Publication type:
- Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 29, doi. 10.1186/1750-1172-6-29
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- Publication type:
- Article
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
- Published in:
- European Journal of Endocrinology, 2013, v. 167, n. 1, p. K1, doi. 10.1530/EJE-12-0701
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- Publication type:
- Article
Comparison of alcoholic chlorhexidine and povidone-iodine cutaneous antiseptics for the prevention of central venous catheter-related infection: a cohort and quasi-experimental multicenter study.
- Published in:
- 2016
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- Publication type:
- journal article
Hydroxocobalamin-attributed risk of oxalate nephropathy: evidence is not sufficient to change the recommended management of cyanide toxicity by fire smoke inhalation.
- Published in:
- 2016
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- Publication type:
- Letter
Emergency feasibility in medical intensive care unit of extracorporeal life support for refractory cardiac arrest.
- Published in:
- 2007
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- Publication type:
- journal article
Pharmacokinetic/pharmacodynamic modelling of cardiac toxicity in venlafaxine overdose.
- Published in:
- 2007
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- Publication type:
- Case Study
Extracorporeal life support in a case of acute carbamazepine poisoning with life-threatening refractory myocardial failure.
- Published in:
- 2006
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- Publication type:
- journal article
Current recommendations for treatment of severe toxic alcohol poisonings.
- Published in:
- 2005
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- Publication type:
- journal article
Increased diffusion of soluble adhesion molecules in meningitis, severe sepsis and systemic inflammatory response without neurological infection is associated with intrathecal shedding in cases of meningitis.
- Published in:
- 2004
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- Publication type:
- journal article
Endovascular hypothermia for heat stroke: a case report.
- Published in:
- 2004
- By:
- Publication type:
- Case Study
Is elevated plasma lactate a useful marker in the evaluation of pure carbon monoxide poisoning?
- Published in:
- 2003
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- Publication type:
- journal article
Treatment of acute methanol poisoning with fomepizole.
- Published in:
- 2001
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- Publication type:
- journal article
Hypothermia with indoor occurrence is associated with a worse outcome.
- Published in:
- 2000
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- Publication type:
- journal article
An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 7, p. 1650, doi. 10.1038/jid.2008.450
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- Publication type:
- Article
A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1442, doi. 10.1038/sj.jid.5701211
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- Publication type:
- Article
Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 123, n. 3, p. 589, doi. 10.1111/j.0022-202X.2004.23401.x
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- Publication type:
- Article
Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 587, doi. 10.1002/humu.22275
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- Publication type:
- Article
Endophilin A2 Deficiency Impairs Antibody Production in Humans.
- Published in:
- Journal of Clinical Immunology, 2024, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01827-1
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- Publication type:
- Article
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 782, doi. 10.1111/cge.14609
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- Publication type:
- Article
Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib.
- Published in:
- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00023-w
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- Publication type:
- Article
Impact of a Postintensive Care Unit Multidisciplinary Follow-up on the Quality of Life (SUIVI-REA): Protocol for a Multicenter Randomized Controlled Trial.
- Published in:
- JMIR Research Protocols, 2022, v. 11, n. 5, p. 1, doi. 10.2196/30496
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- Publication type:
- Article
Interaction of drugs of abuse and maintenance treatments with human P-glycoprotein (ABCB1) and breast cancer resistance protein (ABCG2).
- Published in:
- International Journal of Neuropsychopharmacology, 2010, v. 13, n. 7, p. 905, doi. 10.1017/S1461145709990848
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- Publication type:
- Article
Characteristics of deep vein thrombosis in the critically ill COVID-19 patient - an observational cohort study with Doppler ultrasound measurements.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2022, v. 26, n. 2, p. 686
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- Publication type:
- Article
Effects of Standard-Dose Prophylactic, High-Dose Prophylactic, and Therapeutic Anticoagulation in Patients With Hypoxemic COVID-19 Pneumonia: The ANTICOVID Randomized Clinical Trial.
- Published in:
- JAMA Internal Medicine, 2023, v. 183, n. 6, p. 520, doi. 10.1001/jamainternmed.2023.0456
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- Publication type:
- Article
High-Dose Dexamethasone and Oxygen Support Strategies in Intensive Care Unit Patients With Severe COVID-19 Acute Hypoxemic Respiratory Failure: The COVIDICUS Randomized Clinical Trial.
- Published in:
- JAMA Internal Medicine, 2022, v. 182, n. 9, p. 906, doi. 10.1001/jamainternmed.2022.2168
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- Publication type:
- Article
Statin Therapy to Improve Outcome of COVID-19 Patients: Useful or Not Useful?
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 10, p. 1627, doi. 10.3390/jpm12101627
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- Publication type:
- Article
Impact of Early Limitation of Therapeutic Effort in Elderly COVID-19 Patients Admitted to the Intensive Care Unit—A Cohort Study.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091501
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- Publication type:
- Article
Molecular Bases of Serotonin Reuptake Inhibitor Antidepressant-Attributed Effects in COVID-19: A New Insight on the Role of Bradykinins.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091487
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- Publication type:
- Article
The Time Has Come to Understand the Mechanisms by Which Comorbidities Contribute to COVID-19 Severity.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020123
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- Publication type:
- Article
Outcome of Critically Ill COVID-19 Patients According to the Setting of Corticosteroid Initiation—A Retrospective Observational Cohort Study.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1359, doi. 10.3390/jpm11121359
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- Publication type:
- Article
Dismal Survival in COVID-19 Patients Requiring ECMO as Rescue Therapy after Corticosteroid Failure.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1238, doi. 10.3390/jpm11111238
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- Publication type:
- Article
Non-C. difficile Clostridioides Bacteremia in Intensive Care Patients, France.
- Published in:
- 2021
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- Publication type:
- journal article
Drug Fever.
- Published in:
- Drug Safety, 2012, v. 35, n. 9, p. 759, doi. 10.1007/BF03261972
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- Publication type:
- Article
Drug Fever: a descriptive cohort study from the French national pharmacovigilance database.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Drug Fever: A Descriptive Cohort Study from the French National Pharmacovigilance Database.
- Published in:
- Drug Safety, 2012, v. 35, n. 9, p. 759, doi. 10.2165/11630640-000000000-00000
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- Publication type:
- Article
Pathophysiological Processes Underlying the High Prevalence of Deep Vein Thrombosis in Critically Ill COVID-19 Patients.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.608788
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- Publication type:
- Article
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 219, doi. 10.1159/000527215
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- Publication type:
- Article
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 4, p. 219, doi. 10.1159/000501114
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- Publication type:
- Article
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465
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- Publication type:
- Article
Lipid Emulsion to Treat Acute Poisonings: Mechanisms of Action, Indications, and Controversies.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 5, p. 1396, doi. 10.3390/pharmaceutics15051396
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- Publication type:
- Article
Mechanisms of Neurorespiratory Toxicity Induced by Fentanyl Analogs—Lessons from Animal Studies.
- Published in:
- Pharmaceuticals (14248247), 2023, v. 16, n. 3, p. 382, doi. 10.3390/ph16030382
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- Publication type:
- Article
Investigation of the Mechanisms of Tramadol-Induced Seizures in Overdose in the Rat.
- Published in:
- Pharmaceuticals (14248247), 2022, v. 15, n. 10, p. 1254, doi. 10.3390/ph15101254
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- Publication type:
- Article
Mechanisms of respiratory insufficiency induced by methadone overdose in rats.
- Published in:
- Addiction Biology, 2010, v. 15, n. 1, p. 62, doi. 10.1111/j.1369-1600.2009.00184.x
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- Publication type:
- Article
Homozygous mutation in <italic>ELMO2</italic> may cause Ramon syndrome.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 703, doi. 10.1111/cge.13166
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- Publication type:
- Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361
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- Publication type:
- Article
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 507, doi. 10.1111/cge.12094
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- Publication type:
- Article
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 489, doi. 10.1111/j.1399-0004.2011.01783.x
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- Publication type:
- Article
Early lethal autosomal recessive enterocolitis: report of a second family.
- Published in:
- 2007
- By:
- Publication type:
- Letter