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Search Results to Isabelle Thiffault

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Thiffault, Isabelle

One or more keywords matched the following items that are connected to Thiffault, Isabelle

Item Type	Name
Concept	Intellectual Disability
Concept	Mental Retardation, X-Linked
Academic Article	Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Academic Article	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Academic Article	POLR3A variants in hereditary spastic paraplegia and ataxia.
Academic Article	De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Academic Article	Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Academic Article	Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Academic Article	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Academic Article	Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Academic Article	Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Academic Article	Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Academic Article	De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Academic Article	Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Academic Article	BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Academic Article	Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Academic Article	Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Academic Article	ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Academic Article	Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Academic Article	Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Academic Article	HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Academic Article	Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Academic Article	The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Academic Article	Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Academic Article	Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

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Intellectual Disability