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Single-cell genomics identifies cell type-specific molecular changes in autism

Science (American Association for the Advancement of Science), 2019-05, Vol.364 (6441), p.685-689

2019

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Tropism of SARS-CoV-2 for human cortical astrocytes

Proceedings of the National Academy of Sciences - PNAS, 2022-07, Vol.119 (30), p.e2122236119

2022

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Factors for success of awake prone positioning in patients with COVID-19-induced acute hypoxemic respiratory failure: analysis of a randomized controlled trial

Critical care (London, England), 2022-03, Vol.26 (1), p.84-84, Article 84

2022

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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.928-939

2017

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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5163-5168

2019

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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

PLoS genetics, 2016-03, Vol.12 (3), p.e1005919-e1005919

2016

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Awake prone positioning in acute hypoxaemic respiratory failure

European respiratory review, 2023-06, Vol.32 (168), p.220245

2023

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Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trial

BMJ open, 2020-11, Vol.10 (11), p.e041520-e041520

2020

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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.374-378

2014

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Awake prone positioning for patients with COVID-19-induced acute hypoxemic respiratory failure

Journal of intensive medicine, 2022-10, Vol.2 (4), p.233-240

2022

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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

Npj genomic medicine, 2023-08, Vol.8 (1), p.22-22, Article 22

2023

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Phenotypical and functional alteration of unconventional T cells in severe COVID-19 patients

The Journal of experimental medicine, 2020-12, Vol.217 (12)

2020

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Awake prone positioning for non-intubated patients with COVID-19-related acute hypoxaemic respiratory failure: a systematic review and meta-analysis

The lancet respiratory medicine, 2022-06, Vol.10 (6), p.573-583

2022

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Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Brain (London, England : 1878), 2019-03, Vol.142 (3), p.574-585

2019

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Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

Proceedings of the National Academy of Sciences - PNAS, 2023-02, Vol.120 (7), p.e2217831120

2023

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Single-cell analysis of prenatal and postnatal human cortical development

Science (American Association for the Advancement of Science), 2023-10, Vol.382 (6667), p.eadf0834-eadf0834

2023

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51: PRONE POSITIONING FOR NONINTUBATED COVID-19 PATIENTS: A SYSTEMATIC REVIEW AND META-ANALYSIS

Critical care medicine, 2023-01, Vol.51 (1), p.26-26

2023

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In Reply to Mancilla-Galindo et al

Respiratory care, 2022-02, Vol.67 (2), p.281-281

2022

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ZNF142 mutation causes sex-dependent neurologic disorder

Journal of medical genetics, 2024-06, Vol.61 (6), p.566-577

2024

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Faisabilité et place du décubitus ventral chez le patient non intubé de réanimation

Médecine intensive réanimation, 2022-10

2022

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High-Flow Nasal Cannula Failure Odds Is Largely Independent of Duration of Use in COVID-19

American journal of respiratory and critical care medicine, 2022-05, Vol.205 (10), p.1240-1243

2022

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A cross-species proteomic map reveals neoteny of human synapse development

Nature (London), 2023-10, Vol.622 (7981), p.112-119

2023

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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

Journal of medical genetics, 2016-06, Vol.53 (6), p.397-402

2016

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Inhaled bacteriophage therapy in a porcine model of pneumonia caused by Pseudomonas aeruginosa during mechanical ventilation

British journal of pharmacology, 2021-09, Vol.178 (18), p.3829-3842

2021

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Awake Prone Positioning in Non-Intubated Patients With Acute Hypoxemic Respiratory Failure Due to COVID-19

Respiratory care, 2022-01, Vol.67 (1), p.102-114

2022

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Single-cell genomics identifies cell type-specific molecular changes in autism

Tropism of SARS-CoV-2 for human cortical astrocytes

Factors for success of awake prone positioning in patients with COVID-19-induced acute hypoxemic respiratory failure: analysis of a randomized controlled trial

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

Awake prone positioning in acute hypoxaemic respiratory failure

Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trial

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Awake prone positioning for patients with COVID-19-induced acute hypoxemic respiratory failure

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

Phenotypical and functional alteration of unconventional T cells in severe COVID-19 patients

Awake prone positioning for non-intubated patients with COVID-19-related acute hypoxaemic respiratory failure: a systematic review and meta-analysis

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

Single-cell analysis of prenatal and postnatal human cortical development

51: PRONE POSITIONING FOR NONINTUBATED COVID-19 PATIENTS: A SYSTEMATIC REVIEW AND META-ANALYSIS

In Reply to Mancilla-Galindo et al

ZNF142 mutation causes sex-dependent neurologic disorder

Faisabilité et place du décubitus ventral chez le patient non intubé de réanimation

High-Flow Nasal Cannula Failure Odds Is Largely Independent of Duration of Use in COVID-19

A cross-species proteomic map reveals neoteny of human synapse development

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

Inhaled bacteriophage therapy in a porcine model of pneumonia caused by Pseudomonas aeruginosa during mechanical ventilation

Awake Prone Positioning in Non-Intubated Patients With Acute Hypoxemic Respiratory Failure Due to COVID-19

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