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Research article

First published 2023-5

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction

Norman Ilves, Sander Pajusalu, Tiina Kahre [...]

Journal of Child Neurology

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Case report

First published 2018-5

Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia

Xiao Zhu, Kelly N. Evans, Areeg El-gharbawy [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2024-9

Dental Abnormalities in Two Dental-Skeletal-Retinal Anomaly-Positive Cane Corso Dogs: A Case Series

Alexandra T. Brown, R. Michael Peak, Christopher W. Smithson [...]

Journal of Veterinary Dentistry

Open access

Research article

First published 2021-03-02

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

Sergey N. Bardakov, Roman V. Deev, Raisat M. Magomedova [...]

Journal of Neuromuscular Diseases

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Research article

First published 2008-12

Rapid Molecular Prenatal Diagnosis of Spondyloepiphyseal Dysplasia Congenita by PCR-SSP Assay

Ying-Xia Cui, Xin-Yi Xia, Ying Bu [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2023-10

Vertebral and Basilar Artery Dissection in a Patient With Alport Syndrome

Haley K. Talbot-Stetsko, Sara Saleh, Ashley Brent [...]

The Neurohospitalist

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Case report

First published 2019-7

A triad of retinal signs in Alport syndrome: The ‘stair-case’ fovea,choroidal thinning and peripheral schisis

Nima Ghadiri, N Stanojcic, MSA Raja [...]

European Journal of Ophthalmology

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Research article

First published 2024-2

The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome

Daniel Swanson, Griffin Struyk, Fadlullah Ba’th [...]

The Cleft Palate Craniofacial Journal

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