Ourania Horaitis: linking Human Mutation and the HUGO-Mutation Database Initiative

DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1-3, 2000, Boston, U.S.A.

Human mutation·2000

Going digital: image preparation for biomedical publishing.

The Anatomical record·1999

Stimulation of the mouse rRNA gene promoter by a distal spacer promoter.

Molecular and cellular biology·1995

Expression of mouse and frog rRNA genes: transcription and processing.

Molecular and cellular biochemistry·1991

Enhancers for RNA polymerase I in mouse ribosomal DNA.

Molecular and cellular biology·1990

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

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Human mutation·2026

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART Strategies.

Human mutation·2026

Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy-Associated tRNAIle 4263A > G Mutation.

Human mutation·2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Human mutation·2026

Integrated Mutation Profiling and Prognostic Genomic Signature in Pediatric Testicular and Ovarian Germ Cell Tumors.

Human mutation·2026

Stone Burden at Presentation to a Nigerian Teaching Hospital: Insights from Database of a Uro-Radiology Meeting.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Rock-on or crumble: Do kidney stones pass the test of time? A European Association of Urology Section of Endourology study.

Asian journal of urology·2026

Artificial hibernation reveals synaptic engram architecture associated with memory retention.

Science (New York, N.Y.)·2026

aDISCO: A clearing method to enable 3D microscopy of large archival paraffin-embedded human tissue blocks.

Science advances·2026

The Origin and History of the Zoological Collection at Stazione Zoologica Anton Dohrn Di Napoli.

Zoological science·2026

Where was it? The impact of object nameability, surrounding context, and object placement on episodic object-location memory.

Journal of experimental psychology. Human perception and performance·2026

Related Experiment Videos

Ourania Horaitis: linking Human Mutation and the HUGO-Mutation Database Initiative

Related Concept Videos

DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1-3, 2000, Boston, U.S.A.

Going digital: image preparation for biomedical publishing.

Stimulation of the mouse rRNA gene promoter by a distal spacer promoter.

Expression of mouse and frog rRNA genes: transcription and processing.

Enhancers for RNA polymerase I in mouse ribosomal DNA.

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.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART Strategies.

Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy-Associated tRNAIle 4263A > G Mutation.

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Integrated Mutation Profiling and Prognostic Genomic Signature in Pediatric Testicular and Ovarian Germ Cell Tumors.

Stone Burden at Presentation to a Nigerian Teaching Hospital: Insights from Database of a Uro-Radiology Meeting.

Rock-on or crumble: Do kidney stones pass the test of time? A European Association of Urology Section of Endourology study.

Artificial hibernation reveals synaptic engram architecture associated with memory retention.

aDISCO: A clearing method to enable 3D microscopy of large archival paraffin-embedded human tissue blocks.

The Origin and History of the Zoological Collection at Stazione Zoologica Anton Dohrn Di Napoli.

Where was it? The impact of object nameability, surrounding context, and object placement on episodic object-location memory.

Related Experiment Videos

Ourania Horaitis: linking Human Mutation and the HUGO-Mutation Database Initiative

Related Concept Videos

Related Articles