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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Clinical genetics, 2018-04, Vol.93 (4), p.880-890

2018

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NOTCH2 related disorders: Description and review of the fetal presentation

European journal of medical genetics, 2023-07, Vol.66 (7), p.104769-104769, Article 104769

2023

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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Clinica chimica acta, 2018-10, Vol.485, p.218-223

2018

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Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

European journal of human genetics : EJHG, 2022, Vol.30 (SUPPL 1), p.356-357

2022

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Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

European journal of human genetics : EJHG, 2019, Vol.27, p.1700-1701

2019

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Effect of dissolved oxygen concentration on microalgal culture in photobioreactors

Algal research (Amsterdam), 2019-05, Vol.39, p.101432, Article 101432

2019

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IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas

Leukemia, 2013-01, Vol.27 (1), p.183-189

2013

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Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Epilepsia (Copenhagen), 2024-05, Vol.65 (5), p.1439-1450

2024

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The contribution of virtual reality to the diagnosis of spatial navigation disorders and to the study of the role of navigational aids: A systematic literature review

Annals of physical and rehabilitation medicine, 2017-06, Vol.60 (3), p.164-176

2017

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010

2016

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

American journal of human genetics, 2020-03, Vol.106 (3), p.338-355

2020

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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

American journal of human genetics, 2018-08, Vol.103 (2), p.305-316

2018

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Immunoglobulin genes undergo legitimate repair in human B cells not only after cis- but also frequent trans-class switch recombination

Genes and immunity, 2014-07, Vol.15 (5), p.341-346

2014

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Thirst induced by low frequency right hemisphere focal rTMS: Brain Stimul

Brain stimulation, 2018, Vol.11 (3), p.623-624

2018

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Flexible Long-Range Loops in the VH Gene Region of the Igh Locus Facilitate the Generation of a Diverse Antibody Repertoire

Immunity (Cambridge, Mass.), 2013-08, Vol.39 (2), p.229-244

2013

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Anti-CD20 IgA can protect mice against lymphoma development: evaluation of the direct impact of IgA and cytotoxic effector recruitment on CD20 target cells

Haematologica (Roma), 2012-11, Vol.97 (11), p.1686-1694

2012

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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63559-n/a

2024

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Management of unfavorable outcome after mild traumatic brain injury: Review of physical and cognitive rehabilitation and of psychological care in post-concussive syndrome

Neuro-chirurgie, 2021-05, Vol.67 (3), p.283-289

2021

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Identification of a metabolic network structure representative of arthrospira (spirulina) platensis metabolism

Biotechnology and bioengineering, 2003-12, Vol.84 (6), p.667-676

2003

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Complexes between nuclear factor‐κB p65 and signal transducer and activator of transcription 3 are key actors in inducing activation‐induced cytidine deaminase expression and immunoglobulin A production in CD40L plus interleukin‐10‐treated human blood B cells

Clinical and experimental immunology, 2011-11, Vol.166 (2), p.171-183

2011

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Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Genetics in medicine, 2023-11, Vol.25 (11), p.100938, Article 100938

2023

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in medicine, 2021-10, Vol.23 (10), p.1901-1911

2021

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Diaroyl(methanato)boron Difluoride Compounds as Medium-Sensitive Two-Photon Fluorescent Probes

Chemistry : a European journal, 2004-03, Vol.10 (6), p.1445-1455

2004

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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life science alliance, 2024-03, Vol.7 (3), p.e202302258

2024

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Specific impairment of proximal tubular cell proliferation by a monoclonal light chain responsible for Fanconi syndrome

Nephrology, dialysis, transplantation, 2012-12, Vol.27 (12), p.4368-4377

2012

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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

NOTCH2 related disorders: Description and review of the fetal presentation

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

Effect of dissolved oxygen concentration on microalgal culture in photobioreactors

IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas

Clinical and molecular characterization of patients with YWHAG‐related epilepsy

The contribution of virtual reality to the diagnosis of spatial navigation disorders and to the study of the role of navigational aids: A systematic literature review

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Immunoglobulin genes undergo legitimate repair in human B cells not only after cis- but also frequent trans-class switch recombination

Thirst induced by low frequency right hemisphere focal rTMS: Brain Stimul

Flexible Long-Range Loops in the VH Gene Region of the Igh Locus Facilitate the Generation of a Diverse Antibody Repertoire

Anti-CD20 IgA can protect mice against lymphoma development: evaluation of the direct impact of IgA and cytotoxic effector recruitment on CD20 target cells

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

Management of unfavorable outcome after mild traumatic brain injury: Review of physical and cognitive rehabilitation and of psychological care in post-concussive syndrome

Identification of a metabolic network structure representative of arthrospira (spirulina) platensis metabolism

Complexes between nuclear factor‐κB p65 and signal transducer and activator of transcription 3 are key actors in inducing activation‐induced cytidine deaminase expression and immunoglobulin A production in CD40L plus interleukin‐10‐treated human blood B cells

Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Diaroyl(methanato)boron Difluoride Compounds as Medium-Sensitive Two-Photon Fluorescent Probes

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Specific impairment of proximal tubular cell proliferation by a monoclonal light chain responsible for Fanconi syndrome

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