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Ange-Line Bruel

INSERM
H指数:32
被引数:3,798

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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的从头杂合变体是综合征性神经发育障碍的原因

2026-01-280
OAAI
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
2025-11-031
PRE
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

外显子测序在法国队列中严重非综合征性特定学习及语言障碍的应用

2025-11-010
OAAI
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关的神经发育障碍的临床与分子谱

2025-10-180
PRE
Further phenotypical delineation of DLG3-related neurodevelopmental disorders

DLG3相关的神经发育障碍的进一步表型界定

2025-09-220
OA
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

致病性XPO1变异导致显性神经发育障碍

2025-08-130
OAAI
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS

法国产前诊断中外显子测序的应用:产前诊断中心专业人员的探索性定性研究:Prenatome-SHS

2025-07-220
OA
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
2025-04-010
OA
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
2025-04-010
PRE
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
2025-03-010
OA
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
2025-03-010
PRE
RICTOR variants are associated with neurodevelopmental disorders
2024-12-300
PRE
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review

BRPF1相关疾病的表型与基因型谱:29例新患者及文献综述

2024-12-290
OAAI
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
2024-11-210
OAAI
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024-10-243
OAAI
RNA variant assessment using transactivation and transdifferentiation
2024-08-010
OAAI
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
2024-08-013
OAAI
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
2024-06-070
OAAI
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
2024-05-270
OAAI
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
2024-04-011
PRE