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17 results on '"Brunet, Theresa"'

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1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

2. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

3. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

4. Trio Exome Sequencing in VACTERL Association

5. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

6. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

7. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

8. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

9. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

10. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

11. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

12. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

13. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

14. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

15. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

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