about
Runs of homozygosity in European populationsAssociation of TALS developmental disorder with defect in minor splicing component U4atac snRNALoss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagyCould inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?FSuite: exploiting inbreeding in dense SNP chip and exome data.Estimation of the inbreeding coefficient through use of genomic dataInbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.Relationship inference from the genetic data on parents or offspring: A comparative study.Detection of susceptibility loci by genome-wide linkage analysis.Modeling the effect of a genetic factor for a complex trait in a simulated population.Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data.Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis.Genetics of VEGF serum variation in human isolated populations of cilento: importance of VEGF polymorphisms.Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations.Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolatesSix Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.High level of inbreeding in final phase of 1000 Genomes Project.Presence of large deletions in kindreds with autism.Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.G2019S LRRK2 mutation in French and North African families with Parkinson's disease.Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.Strategies for phasing and imputation in a population isolate.Polynesian ecology determines seasonality of biliary atresia.Does inbreeding affect N-glycosylation of human plasma proteins?Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Développement embryonnaire précoceImpact of parental relationships in maximum lod score affected sib-pair methodGenome-wide inbreeding estimation within Lebanese communities using SNP arraysLe don anonyme de sperme n’augmente pas significativement les unions entre apparentés, la consanguinité et l’incidence des maladies récessivesLRRK2G2019S as a Cause of Parkinson's Disease in North African ArabsLRRK2, un gène de la famille ROCO impliquée dans la maladie de ParkinsonDetecting the dominance component of heritability in isolated and outbred human populationsWhole-Exome Sequencing in the Isolated Populations of Cilento from South ItalyNew insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Anne-Louise Leutenegger
@ast
Anne-Louise Leutenegger
@en
Anne-Louise Leutenegger
@es
Anne-Louise Leutenegger
@nl
Anne-Louise Leutenegger
@sl
type
label
Anne-Louise Leutenegger
@ast
Anne-Louise Leutenegger
@en
Anne-Louise Leutenegger
@es
Anne-Louise Leutenegger
@nl
Anne-Louise Leutenegger
@sl
prefLabel
Anne-Louise Leutenegger
@ast
Anne-Louise Leutenegger
@en
Anne-Louise Leutenegger
@es
Anne-Louise Leutenegger
@nl
Anne-Louise Leutenegger
@sl
P108
P1053
B-5597-2009
P106
P1153
7005465570
P21
P31
P496
0000-0002-1302-4357