[Same mutation type behind several diseases. Repetition of trinucleotides is revealing]

Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

Acta neurologica Scandinavica·2005

Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.

Genes and immunity·2005

Changes in diaphragm structure following prolonged mechanical ventilation in piglets.

Acta anaesthesiologica Scandinavica·2004

APOE genotypes and disease severity in multiple sclerosis.

Multiple sclerosis (Houndmills, Basingstoke, England)·2002

Huntington disease phenocopy is a familial prion disease.

American journal of human genetics·2001

Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.

Neuropediatrics·2001

[The Swedish Neonatal Quality Register (SNQ) - a complete register for a complex chain of events].

Lakartidningen·2026

[Postoperative atrial fibrillation after open heart surgery].

Lakartidningen·2026

[Interaction between psychotic patients and AI-driven chatbots].

Lakartidningen·2026

[Superficial venous thrombosis of the lower extremities].

Lakartidningen·2026

[Switch from STEMI to OMI].

Lakartidningen·2026

[Maxillomandibular advancement].

Lakartidningen·2026

Network-based stratification of allele-specific expression reveals patient subgroups in Huntington's disease.

Bioinformatics (Oxford, England)·2026

Association of HTR2A (rs6313) gene polymorphism with autism spectrum disorder in Jordanian children: a case-control study.

Drug metabolism and personalized therapy·2026

Single-cell Transcriptome-wide Mendelian Randomization and Colocalization Converge on Astrocytic TRIM66 as a Candidate Driver and Potential Therapeutic Target for Trigeminal Neuralgia.

Current medicinal chemistry·2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

American journal of medical genetics. Part A·2026

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.

Human mutation·2026

Functional genomics in Xenopus identifies ARHGAP10 as a congenital heart disease and ciliopathy gene.

iScience·2026

Related Experiment Videos

[Same mutation type behind several diseases. Repetition of trinucleotides is revealing]

Related Concept Videos

Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.

Changes in diaphragm structure following prolonged mechanical ventilation in piglets.

APOE genotypes and disease severity in multiple sclerosis.

Huntington disease phenocopy is a familial prion disease.

Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.

[The Swedish Neonatal Quality Register (SNQ) - a complete register for a complex chain of events].

[Postoperative atrial fibrillation after open heart surgery].

[Interaction between psychotic patients and AI-driven chatbots].

[Superficial venous thrombosis of the lower extremities].

[Switch from STEMI to OMI].

[Maxillomandibular advancement].

Network-based stratification of allele-specific expression reveals patient subgroups in Huntington's disease.

Association of HTR2A (rs6313) gene polymorphism with autism spectrum disorder in Jordanian children: a case-control study.

Single-cell Transcriptome-wide Mendelian Randomization and Colocalization Converge on Astrocytic TRIM66 as a Candidate Driver and Potential Therapeutic Target for Trigeminal Neuralgia.

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male Infertility.

Functional genomics in Xenopus identifies ARHGAP10 as a congenital heart disease and ciliopathy gene.

Related Experiment Videos

[Same mutation type behind several diseases. Repetition of trinucleotides is revealing]

Related Concept Videos

Related Articles