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Open access

Research article

First published 2025-5

The ANthropological Notation Ontology (ANNO): A Core Ontology for Annotating Human Bones and Deriving Phenotypes

Marie Heuschkel, Konrad Höffner, Fabian Schmiedel [...]

Semantic Web: – Interoperability,Usability,Applicability

Open access

Research article

First published 2013

Decomposing Phenotype Descriptions for the Human Skeletal Phenome

Tudor Groza, Jane Hunter, Andreas Zankl

Biomedical Informatics Insights

Free access

Research article

First published 2019

A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks

Madhavi Prasad, Michael Glueck, Delia Ceballos-Saenz [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2006-05

Experience

Scott Lash

Theory,Culture & Society

Open access

Research article

First published 2025

A Postgenomic Quilt: The Turn to Endophenotypes and Deep Phenotyping in Human Genetics

Daniel Navon, Kathryne Metcalf

Science,Technology,& Human Values

Retricted access

Brief report

First published 2021-10-26

Early-Onset Dementia Associated with a Heterozygous,Nonsense,and de novo Variant in the MBD5 Gene

Guillermo González-Ortega, Sara Llamas-Velasco, Ana Arteche-López [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2008

Exploring the Evolutionary History of the Differentially Expressed Genes between Human Populations: Action of Recent Positive Selection

Wei Zhang, M. Eileen Dolan

Evolutionary Bioinformatics

Retricted access

Abstract

First published 2016-9

Identification of Associated Genes and Diseases in Patients With Congenital Upper Limb Anomalies

M. Baas, S. E. R. Hovius, R. J. H. Galjaard [...]

HAND

Retricted access

Research article

First published 2009-12

GeneDecks: Paralog Hunting and Gene-Set Distillation with GeneCards Annotation

Gil Stelzer, Aron Inger, Tsviya Olender [...]

OMICS: A Journal of Integrative Biology

Open access

Research article

First published 2016-4

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

Maria da Conceição Pereira, Sara Morais, Jorge Sequeiros [...]

ASN Neuro

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