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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

artículo científico publicado en 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

artículo científico publicado en 2019

Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

article

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

artículo científico publicado en 2020

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians

artículo científico publicado en 2007

Genome-wide TDT analysis in French-Canadian families with Tourette syndrome

artículo científico publicado en 2010

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort ⬇️

artículo científico publicado el 1 de septiembre de 2011

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

artículo científico publicado en 2011

LINGO1 variants in the French-Canadian population

artículo científico publicado en 2011

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families

artículo científico publicado en 2007

Mutations in DCC cause congenital mirror movements.

artículo científico publicado en 2010

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

artículo científico publicado en 2019

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

artículo científico publicado en 2002

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

artículo científico publicado en 2016

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

artículo científico publicado en 2014

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

artículo científico publicado en 2011

Lista de obras de

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Exome sequencing identifies FUS mutations as a cause of essential tremor

Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians

Genome-wide TDT analysis in French-Canadian families with Tourette syndrome

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort ⬇️

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

LINGO1 variants in the French-Canadian population

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families

Mutations in DCC cause congenital mirror movements.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum