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Thiffault, Isabelle

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

Item Type	Name
Concept	Pedigree
Academic Article	Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article	Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Academic Article	MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Academic Article	Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Academic Article	Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Academic Article	The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Academic Article	The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men.
Academic Article	Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
Academic Article	Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families.
Academic Article	A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Academic Article	A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
Academic Article	A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
Academic Article	Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.
Academic Article	Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
Academic Article	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Academic Article	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
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	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Academic Article	LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.
Academic Article	Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Academic Article	Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Academic Article	Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

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