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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

Clinical genetics, 2016-02, Vol.89 (2), p.198-204

2016

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STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes

European journal of medical genetics, 2022-12, Vol.65 (12), p.104636-104636, Article 104636

2022

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Fragile X syndrome: economic burden and health‐related quality of life of patients and caregivers in France

Journal of intellectual disability research, 2015-12, Vol.59 (12), p.1108-1120

2015

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Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2006-05, Vol.27 (5), p.477-481

2006

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A french adaptation of the vineland adaptive behavior scales VABS-II

European psychiatry, 2021-04, Vol.64 (S1), p.S155-S156

2021

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Role of multidimensional evaluations in the support of school trajectories of children with mild to moderate intellectual disability

European psychiatry, 2021-04, Vol.64 (S1), p.S125-S126

2021

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Electro-Optical Biosensor Based on Embedded Double-Monolayer of Graphene Capacitor in Polymer Technology

Polymers, 2021-10, Vol.13 (20), p.3564

2021

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Developmental approach of executive functions: From infancy to adolescence

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-01, Vol.24 (1), p.66-72

2017

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Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data

Ultrasound in obstetrics & gynecology, 2008-07, Vol.32 (1), p.50-60

2008

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OP14.07: Outcomes of fetuses with small cerebellum on second and third trimester ultrasonography

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.93-93

2017

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Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Journal of medical genetics, 2007-11, Vol.44 (11), p.739-744

2007

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Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

Neurology, 2010-08, Vol.75 (7), p.641-645

2010

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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

Neurology, 2006-11, Vol.67 (9), p.1713-1714

2006

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Cell, 1998-01, Vol.92 (1), p.51-61

1998

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Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

NeuroImage (Orlando, Fla.), 2014-11, Vol.102 (2), p.317-331

2014

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Relationships between blossom blight and brown rot incidence at postharvest vary within seasons, peach cultivars and maturation period

Acta horticulturae, 2021-02 (1304), p.347-354

2021

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Pineal region tumors: Clinical symptoms and syndromes

Neuro-chirurgie, 2015-04, Vol.61 (2), p.106-112

2015

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Spatially Coherent Tip-Enhanced Raman Spectroscopy Measurements of Electron–Phonon Interaction in a Graphene Device

Nano letters, 2023-10, Vol.23 (19), p.8827-8832

2023

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Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities

Neurology, 2003-07, Vol.61 (2), p.241-243

2003

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Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2014-03, Vol.43 (3), p.346-352

2014

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Neurology, 2005-11, Vol.65 (9), p.1364-1369

2005

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Ultrasound in obstetrics & gynecology, 2008-06, Vol.31 (6), p.712-714

2008

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West syndrome due to compound heterozygous QARS mutations

European journal of paediatric neurology, 2017-06, Vol.21, p.e99-e99

2017

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Anti-tumor necrosis factor alpha therapy, Adalimumab, in Rasmussen's encephalitis

European journal of paediatric neurology, 2017-06, Vol.21, p.e8-e8

2017

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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes

Fragile X syndrome: economic burden and health‐related quality of life of patients and caregivers in France

Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis

A french adaptation of the vineland adaptive behavior scales VABS-II

Role of multidimensional evaluations in the support of school trajectories of children with mild to moderate intellectual disability

Electro-Optical Biosensor Based on Embedded Double-Monolayer of Graphene Capacitor in Polymer Technology

Developmental approach of executive functions: From infancy to adolescence

Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data

OP14.07: Outcomes of fetuses with small cerebellum on second and third trimester ultrasonography

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

Relationships between blossom blight and brown rot incidence at postharvest vary within seasons, peach cultivars and maturation period

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Pineal region tumors: Clinical symptoms and syndromes

Spatially Coherent Tip-Enhanced Raman Spectroscopy Measurements of Electron–Phonon Interaction in a Graphene Device

Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities

Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

West syndrome due to compound heterozygous QARS mutations

Anti-tumor necrosis factor alpha therapy, Adalimumab, in Rasmussen's encephalitis

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