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Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

Molecular autism, 2021-02, Vol.12 (1), p.8-8, Article 8

2021

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A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity

Pediatrics (Evanston), 2023-07, Vol.152 (1), p.1

2023

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Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills

Psychiatric genetics, 2023-10

2023

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Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

European journal of medical genetics, 2020-06, Vol.63 (6), p.103897-103897, Article 103897

2020

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B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI

Clinical genetics, 2024-10, Vol.106 (4), p.476-482

2024

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Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology

Child's nervous system, 2020-05, Vol.36 (5), p.961-965

2020

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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency

European journal of medical genetics, 2020-10, Vol.63 (10), p.103994-103994, Article 103994

2020

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Journal of medical genetics, 2019-08, Vol.56 (8), p.526-535

2019

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

European journal of human genetics : EJHG, 2024-09, Vol.32 (9), p.1166-1183

2024

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A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.164-168

2015

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Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

European journal of medical genetics, 2022-04, Vol.65 (4), p.104458-104458, Article 104458

2022

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Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

Molecular syndromology, 2020-11, Vol.11 (4), p.223-227

2020

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Neonatal tremor episodes and hyperekplexia‐like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy

Epileptic disorders, 2018-08, Vol.20 (4), p.289-294

2018

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Intrafamilial Variability in LPIN1-Related Rhabdomyolysis

Molecular syndromology, 2020-07, Vol.11 (3), p.153-156

2020

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ZEB2, a new candidate gene for asplenia

Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.2-2, Article 2

2014

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Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

Molecular syndromology, 2019-07, Vol.10 (4), p.209-213

2019

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A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course

Child neurology open, 2015-10, Vol.2 (4), p.2329048X15609053-2329048X15609053

2015

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Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

Molecular syndromology, 2020, Vol.11 (4), p.223-227

2020

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ZEB2, a new candidate gene for asplenia

Orphanet journal of rare diseases, 2014, Vol.9, p.2-2

2014

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Pervasiveness of the symbiont Serratia symbiotica in the aphid natural environment: distribution, diversity and evolution at a multitrophic level

FEMS microbiology ecology, 2022-02, Vol.98 (1)

2022

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Bladder function after radical hysterectomy for cervical cancer

Neurourology and urodynamics, 2015-04, Vol.34 (4), p.309-315

2015

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Bladder function after radical hysterectomy for cervical cancer

Neurourology and urodynamics, 2015-04, Vol.34 (4), p.309-315

2015

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Cardiovascular Efficacy and Safety of Bococizumab in High-Risk Patients

The New England journal of medicine, 2017-04, Vol.376 (16), p.1527-1539

2017

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Oestrogens and overactive bladder

Neurourology and urodynamics, 2014-09, Vol.33 (7), p.1086-1091

2014

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Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity

Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI

Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

Neonatal tremor episodes and hyperekplexia‐like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy

Intrafamilial Variability in LPIN1-Related Rhabdomyolysis

ZEB2, a new candidate gene for asplenia

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

ZEB2, a new candidate gene for asplenia

Bumetanide for the treatment of seizures in newborn babies with hypoxic ischaemic encephalopathy (NEMO): an open-label, dose finding, and feasibility phase 1/2 trial

Pervasiveness of the symbiont Serratia symbiotica in the aphid natural environment: distribution, diversity and evolution at a multitrophic level

Bladder function after radical hysterectomy for cervical cancer

Bladder function after radical hysterectomy for cervical cancer

Cardiovascular Efficacy and Safety of Bococizumab in High-Risk Patients

Oestrogens and overactive bladder

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