Identification of seven novel mutations associated with metachromatic leukodystrophy

Regional differences in optic disc and retinal circulation.

Acta ophthalmologica Scandinavica·2001

Photodetector sensitivity level and heidelberg retina flowmeter measurements in humans.

Investigative ophthalmology & visual science·2001

Identification of HE1 as the second gene of Niemann-Pick C disease.

Science (New York, N.Y.)·2000

Misattribution of sensory input reflected in dysfunctional target:non-target ERPs in schizophrenia.

Psychological medicine·2000

Regenerating motor neurons express Nna1, a novel ATP/GTP-binding protein related to zinc carboxypeptidases.

Molecular and cellular neurosciences·2000

Platelet-derived endothelial cell growth factor expression and angiogenesis in cervical intraepithelial neoplasia and squamous cell carcinoma of the cervix.

Annals of diagnostic pathology·2000

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Human mutation·2026

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Human mutation·2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation·2026

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

Human mutation·2026

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation·2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Human mutation·2026

Genetic and stochastic basis of phenotypic discordance in 16p11.2 mouse model deletion.

bioRxiv : the preprint server for biology·2026

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Clinical genetics·2026

DNA Methylation Profiling in IDH-Mutant Gliomas: Biological Evolution, Molecular Grading and Clinical Implementation.

Neuropathology and applied neurobiology·2026

Multiomic Single-Nucleus Profiling Reveals Cell-Type-Specific Epigenetic and Transcriptional Dysregulation in Major Depressive Disorder Brain.

The international journal of neuropsychopharmacology·2026

Serum Isthmin-1 in Gestational Diabetes Mellitus: A Case-Control Study Providing Preliminary Evidence of Elevated Levels and Association With Insulin Resistance.

Medical science monitor : international medical journal of experimental and clinical research·2026

Genomic structural equation modeling reveals novel genetic loci and pathways in panvascular disease.

Medicine·2026

Related Experiment Videos

Identification of seven novel mutations associated with metachromatic leukodystrophy

Related Concept Videos

Regional differences in optic disc and retinal circulation.

Photodetector sensitivity level and heidelberg retina flowmeter measurements in humans.

Identification of HE1 as the second gene of Niemann-Pick C disease.

Misattribution of sensory input reflected in dysfunctional target:non-target ERPs in schizophrenia.

Regenerating motor neurons express Nna1, a novel ATP/GTP-binding protein related to zinc carboxypeptidases.

Platelet-derived endothelial cell growth factor expression and angiogenesis in cervical intraepithelial neoplasia and squamous cell carcinoma of the cervix.

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Genetic and stochastic basis of phenotypic discordance in 16p11.2 mouse model deletion.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

DNA Methylation Profiling in IDH-Mutant Gliomas: Biological Evolution, Molecular Grading and Clinical Implementation.

Multiomic Single-Nucleus Profiling Reveals Cell-Type-Specific Epigenetic and Transcriptional Dysregulation in Major Depressive Disorder Brain.

Serum Isthmin-1 in Gestational Diabetes Mellitus: A Case-Control Study Providing Preliminary Evidence of Elevated Levels and Association With Insulin Resistance.

Genomic structural equation modeling reveals novel genetic loci and pathways in panvascular disease.

Related Experiment Videos

Identification of seven novel mutations associated with metachromatic leukodystrophy

Related Concept Videos

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