Sage Journals: Discover world-class research

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Research article

First published 2001-5

Congenital cardiac malformations in fetuses with chromosome 22q11.2 microdeletion (CATCH 22)

Cornelia Tennstedt, Petra Zschieschang, Rabih Chaoui [...]

Electronic Journal of Pathology and Histology

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Case report

First published 2024-11

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction

Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot [...]

Pediatric and Developmental Pathology

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Research article

First published 2018-1

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal,Perinatal,and Early Infant Death

Jane E Armes, Mark Williams, Gareth Price [...]

Pediatric and Developmental Pathology

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Case report

First published 2022-3

Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis

Francisco Ribeiro-Mourão, Ana Vilan, Sara Passos-Silva [...]

Journal of Neonatology

Free access

Research article

First published 1996-03

Gonadal Dysgenesis in Association With Campomelic Dysplasia

Lisa M. Winderl, Tanya M. McGuire, Vinu Patel

Journal of Diagnostic Medical Sonography

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Case report

First published 2014-7

Bilateral Congenital Adrenal Agenesis: A Rare Disease Entity and Not a Result of Poor Autopsy Technique

Colleen D'Arcy, Mark Pertile, Tess Goodwin [...]

Pediatric and Developmental Pathology

Open access

Case report

First published 2025

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report

Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei [...]

Sage Open Medical Case Reports

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Research article

First published 2017-12

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome

Mirena C. Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2012-10

Fetal Microchimeric Cells in a Fetus-Treats-Its-Mother Paradigm Do Not Contribute to Dystrophin Production in Serially Parous mdx Females

Elke Jane Seppanen, Samantha Susan Hodgson, Kiarash Khosrotehrani [...]

Stem Cells and Development

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