Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.

Human molecular genetics·2026

Single-cell transcriptomic integrated with machine learning reveals human retinal cell-specific biomarkers in diabetic retinopathy.

Human molecular genetics·2026

Neurodevelopmental alterations are key drivers of SPG56.

Human molecular genetics·2026

Genome-wide mapping of replication stress response factors reveals the management of polycistronic transcription, replication initiation, and responses to replication stress in Leishmania.

Nucleic acids research·2026

Causal attribution by the chain rule: unifying natural selection, learning, economics, and other disciplines.

Evolution letters·2026

Genome-scale modeling of the influence of microbiota-derived butyrate on the regulation of human metabolism by the histone deacetylase SIRT1.

The American journal of clinical nutrition·2026

Integrative 3D genome and epigenomic analysis identifies TP53RK and SYBU as critical regulators of stemness and anti-tumor immunity in HCC.

Cell reports·2026

Identification of hypertension-associated bacterial key genes as potential targets and therapeutic agents through integrated bioinformatics approach.

International microbiology : the official journal of the Spanish Society for Microbiology·2026

Human risk taking and metabolic state: No credible evidence for desacyl-ghrelin modulation of neural or behavioural effects.

Imaging neuroscience (Cambridge, Mass.)·2026

Related Experiment Videos

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.

Single-cell transcriptomic integrated with machine learning reveals human retinal cell-specific biomarkers in diabetic retinopathy.

Neurodevelopmental alterations are key drivers of SPG56.

Genome-wide mapping of replication stress response factors reveals the management of polycistronic transcription, replication initiation, and responses to replication stress in Leishmania.

Causal attribution by the chain rule: unifying natural selection, learning, economics, and other disciplines.

Genome-scale modeling of the influence of microbiota-derived butyrate on the regulation of human metabolism by the histone deacetylase SIRT1.

Integrative 3D genome and epigenomic analysis identifies TP53RK and SYBU as critical regulators of stemness and anti-tumor immunity in HCC.

Identification of hypertension-associated bacterial key genes as potential targets and therapeutic agents through integrated bioinformatics approach.

Human risk taking and metabolic state: No credible evidence for desacyl-ghrelin modulation of neural or behavioural effects.

Related Experiment Videos

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Related Concept Videos

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