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Title
22q11.2 deletion syndrome
Authors
Keywords
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Journal
Nature Reviews Disease Primers
Volume -, Issue -, Pages 15071
Publisher
Springer Nature
Online
2015-11-18
DOI
10.1038/nrdp.2015.71
References
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Note: Only part of the references are listed.- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
- (2015) Elisabeth E. Mlynarski et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- 22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of FallotCLINICAL PERSPECTIVE
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- MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del
- (2015) Dejian Zhao et al. PLoS One
- Central 22q11.2 deletions
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- Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
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- A 35-Year Experience With Syndromic Cleft Palate Repair
- (2014) Marten N. Basta et al. ANNALS OF PLASTIC SURGERY
- Evolutionary and developmental origins of the cardiac neural crest: Building a divided outflow tract
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- Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation
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- (2013) Solrun Melkorka Maggadottir et al. Journal of Allergy and Clinical Immunology-In Practice
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- (2008) J. Newbern et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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