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Open access

Research article

First published 2013

Decomposing Phenotype Descriptions for the Human Skeletal Phenome

Tudor Groza, Jane Hunter, Andreas Zankl

Biomedical Informatics Insights

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Review article

First published 2024-11

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

Yana A. Wilson, Natasha Garrity, Hayley Smithers-Sheedy [...]

Journal of Child Neurology

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Case report

First published 2023-7

Diabetic papillopathy in patients with optic disc drusen: Description of two different phenotypes

Daniel Becker, Michael Larsen, Henrik Lund-Andersen [...]

European Journal of Ophthalmology

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Research article

First published 2007-5

Phenotype Description of a Novel DFNA9/COCH Mutation,I109T

Robert J. Pauw, Patrick L. M. Huygen, Rob W. J. Collin [...]

Annals of Otology,Rhinology & Laryngology

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

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Research article

First published 2003-6

Patient with XY Karyotype and Female Phenotype: Description and Psychological Implications

Niazi Kraya

Australasian Psychiatry

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Research article

First published 2018-8

Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy

Angela J. Lee, Edward T. Buckingham, Aaron J. Kauer [...]

Journal of Child Neurology

Free access

Research article

First published 2016

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

Simao Cruz, Sebastian Figueroa-Bonaparte, Eduard Gallardo [...]

Journal of Neuromuscular Diseases

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Research article

First published 2026

Standardized Method for Description of Cleft Lip and Palate Phenotypes and Its Implementation in Daily Practice: Validation Study

Aleksandar Vlahovic, Olivera Stefanovic, Katarina Mladenovic [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2015-04

Pseudoloma neurophilia : A Retrospective and Descriptive Study of Nervous System and Muscle Infections,with New Implications for Pathogenesis and Behavioral Phenotypes

Sean Thomas Spagnoli, Lan Xue, Katrina N. Murray [...]

Zebrafish

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