Linkage studies in a large kindred with familial hypercholesterolemia

Genetically determined apo B levels and peak LDL density predict angiographic response to intensive lipid-lowering therapy.

Journal of internal medicine·2006

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.

Neurology·2003

Locus ordering based on crossover information in family haplotypes: application of a "minimum break" algorithm.

Genetic epidemiology·2002

Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study.

Atherosclerosis·2001

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

JAMA·2001

Complete genomic screen in Parkinson disease: evidence for multiple genes.

JAMA·2001

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

American journal of human genetics·2026

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

International journal of molecular sciences·2026

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

Plants (Basel, Switzerland)·2026

Related Experiment Videos

Linkage studies in a large kindred with familial hypercholesterolemia

Related Concept Videos

Genetically determined apo B levels and peak LDL density predict angiographic response to intensive lipid-lowering therapy.

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease.

Locus ordering based on crossover information in family haplotypes: application of a "minimum break" algorithm.

Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study.

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.

Complete genomic screen in Parkinson disease: evidence for multiple genes.

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

Related Experiment Videos

Linkage studies in a large kindred with familial hypercholesterolemia

Related Concept Videos

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