Sage Journals: Discover world-class research

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Research article

First published 1998-9

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

Noelyn A. Hung, Meredith M. Silver, David Chitayat [...]

Pediatric and Developmental Pathology

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Case report

First published 2022-9

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations

Nurettin Bayram, Ayşe Kaçar Bayram, Hüseyin Per [...]

European Journal of Ophthalmology

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Case report

First published 2005-10

Difficulties with prenatal diagnosis of the walker-warburg syndrome

A. S. C. Low, S. L. Lee, A. S. A. Tan [...]

Acta Radiologica

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Case report

First published 2018-5

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker–Warburg Syndrome

Zöe Powis, Adam C Chamberlin, Christina L Alamillo [...]

Pediatric and Developmental Pathology

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Research article

First published 2007-8

Fetal Gonadoblastoid Testicular Dysplasia: A Focal Failure of Testicular Development

Manuel Nistal, José I. Rodríguez, Eugenia García-Fernández [...]

Pediatric and Developmental Pathology

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Research article

First published 2026-3

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia

Renae L. Schroeder, Anna M. Fuller, Rachel R. Reith [...]

Veterinary Pathology

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Other

First published 1998-06

Congenital Muscular Dystrophy With Complete Laminin-α2-Deficiency,Cortical Dysplasia,and Cerebral White-Matter Changes in Children

Chang-Yong Tsao, Jerry R. Mendell, Jerome Rusin [...]

Journal of Child Neurology

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Research article

First published 2000-8

Malformazione focale oculo-encefalica

F.A. Lupo, S.C. Perfetto, G. Sticchi

The Neuroradiology Journal

Free access

Other

First published 2003-09

The Sonographic Evaluation of Lissencephaly

Brandy Sundberg, Kim Michael, Jody Berg

Journal of Diagnostic Medical Sonography

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Case report

First published 2015-8

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan

Alexandra Drought, Ruwan Wimalasundera, Susan Holder

Ultrasound

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