XNP mutation in a large family with Juberg-Marsidi syndrome

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

Crop legacies as genetic targets for sustainable farming systems.

Nature genetics·2026

Type 1 interferon perturbates clonal competition by reshaping human blood development.

Nature genetics·2026

Pan-genome-based resequencing of 2,320 accessions reveals structural variations and accelerates breeding advances in cultivated peanut.

Nature genetics·2026

All of Us diversity and scale yield context-dependent improvements in polygenic prediction.

Nature genetics·2026

APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease.

Nature genetics·2026

Contribution of copy number variants to schizophrenia in East Asian populations.

Nature genetics·2026

Establishment of epidemiological cut-off values of cefotaxime-sulbactam against Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae, Proteus mirabilis, Serratia marcescens, Acinetobacter baumannii and Staphylococcus aureus.

Frontiers in microbiology·2026

mcr-Mediated Colistin Resistance in Escherichia coli: A One Health Review of Reported Prevalence Across Human, Animal, Food, and Environmental Sectors.

Public health challenges·2026

Lipid raft protein Flotillin 2 facilitates alphavirus infection through promoting viral release.

Insect science·2026

Targeting Outer Membrane Vesicles of Pseudomonas aeruginosa: From Pathogenesis to Therapeutics.

Journal of microbiology and biotechnology·2026

Post-marketing safety assessment of mirvetuximab soravtansine: a disproportionality analysis based on the FDA Adverse Event Reporting System.

Journal of gynecologic oncology·2026

Magneto-Sono-Enhanced Nanozyme Catalysis Drives ROS-Mediated Pathogen Killing and Mitophagy-Linked Inflammation Control in Bacterial Pneumonia.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Related Experiment Videos

XNP mutation in a large family with Juberg-Marsidi syndrome

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.

Crop legacies as genetic targets for sustainable farming systems.

Type 1 interferon perturbates clonal competition by reshaping human blood development.

Pan-genome-based resequencing of 2,320 accessions reveals structural variations and accelerates breeding advances in cultivated peanut.

All of Us diversity and scale yield context-dependent improvements in polygenic prediction.

APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease.

Contribution of copy number variants to schizophrenia in East Asian populations.

Establishment of epidemiological cut-off values of cefotaxime-sulbactam against Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae, Proteus mirabilis, Serratia marcescens, Acinetobacter baumannii and Staphylococcus aureus.

mcr-Mediated Colistin Resistance in Escherichia coli: A One Health Review of Reported Prevalence Across Human, Animal, Food, and Environmental Sectors.

Lipid raft protein Flotillin 2 facilitates alphavirus infection through promoting viral release.

Targeting Outer Membrane Vesicles of Pseudomonas aeruginosa: From Pathogenesis to Therapeutics.

Post-marketing safety assessment of mirvetuximab soravtansine: a disproportionality analysis based on the FDA Adverse Event Reporting System.

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XNP mutation in a large family with Juberg-Marsidi syndrome

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