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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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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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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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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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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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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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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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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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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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Pineal region tumors: Clinical symptoms and syndromes

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

2015

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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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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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Implicit procedural learning in fragile X and Down syndrome

Journal of intellectual disability research, 2011-05, Vol.55 (5), p.521-528

2011

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Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases

Ultrasound in obstetrics & gynecology, 2024-02, Vol.63 (2), p.271-275

2024

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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Human molecular genetics, 1998-07, Vol.7 (7), p.1063-1070

1998

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Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?

European journal of paediatric neurology, 2017-06, Vol.21, p.e98-e98

2017

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6q22.1 deletion is associated with epilepsy and abnormal movements

European journal of paediatric neurology, 2017-06, Vol.21, p.e52-e53

2017

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Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication

European journal of paediatric neurology, 2017-06, Vol.21, p.e43-e43

2017

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Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability

European journal of paediatric neurology, 2017-06, Vol.21, p.e52-e52

2017

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PP02.4 – 2917: Cognitive outcome of isolated agenesis of the corpus callosum diagnosed during pregnancy: A clinical follow up of 46 patients

European journal of paediatric neurology, 2015-05, Vol.19, p.S33-S34

2015

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

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

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

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

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

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

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

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

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

Pineal region tumors: Clinical symptoms and syndromes

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

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

Implicit procedural learning in fragile X and Down syndrome

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Christianson syndrome: An underestimated cause of electrical status epilepticus in sleep?

6q22.1 deletion is associated with epilepsy and abnormal movements

Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication

Next-generation sequencing (NGS) is a powerful tool to improve diagnostic yield in intellectual disability

PP02.4 – 2917: Cognitive outcome of isolated agenesis of the corpus callosum diagnosed during pregnancy: A clinical follow up of 46 patients

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