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Research article

First published 2013-11

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation

Giovanni Baranello, Claudia Cesaretti, Fabio Zambonin [...]

Journal of Child Neurology

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Research article

First published 2002-3

Unusual Variant of Holoprosencephaly in Monosomy 13q

Pascale Marcorelles, Philippe Loget, Catherine Fallet-Bianco [...]

Pediatric and Developmental Pathology

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Research article

First published 2009-06

A 14-Year Follow-Up of a Case Detected Prenatally of Partial Trisomy 13q21.32-qter and Monosomy 18q22.3-qter as a Result of a Maternal Complex Chromosome Rearrangement Involving Chromosomes 6,13,and 18

Roberto Quadrelli, Andrea Quadrelli, Aubrey Milunsky [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2016-3

Sonographic Detection of an Unknown Chromosomal Disorder in Utero

Kayci Mount, Kelsy Loren Fisher

Journal of Diagnostic Medical Sonography

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Research article

First published 2002-09

Robertsonian Translocations: Mechanisms of Formation,Aneuploidy,and Uniparental Disomy and Diagnostic Considerations

Sung-Ryul Kim, Lisa G. Shaffer

Genetic Testing and Molecular Biomarkers

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Research article

First published 2008-9

Genetics of Brain Tumors

M.M. Sąsiadek, A. Trusewicz, I. Łaczmañska [...]

The Neuroradiology Journal

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Research article

First published 2013-1

Coronal Vertebral Clefts: A Radiological Indicator for Chromosomal Aberrations

Elke Doberentz, Reinhard Schumacher, Ulrich Gembruch [...]

Pediatric and Developmental Pathology

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Research article

First published 2005-7

Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q

J. M. De Pater, P. G. J. Nikkels, M. Poot [...]

Pediatric and Developmental Pathology

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Research article

First published 2011-11

Implementation and Experience of an Alternative QF-PCR and MLPA Diagnostic Strategy to Detect Chromosomal Abnormalities in Fetal and Neonatal Pathology Samples

Louise S. McClelland, Stephanie K. Allen, Simon A. Larkins [...]

Pediatric and Developmental Pathology

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Research article

First published 2015-3

Gonadoblastoma in Patients with Ullrich-Turner Syndrome

Gabriela Zelaya, Jessica M. López Marti, Roxana Marino [...]

Pediatric and Developmental Pathology

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