22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening
Author:
Affiliation:
1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas-Unicamp, Campinas, São Paulo, Brazil
Publisher
Georg Thieme Verlag KG
Subject
Genetics (clinical),Pediatrics, Perinatology and Child Health
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0035-1554976.pdf
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
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2. Next-generation sequencing for inborn errors of immunity;Human Immunology;2021-11
3. Chromosomal aberrations as the cause of a complex phenotype in children with primary immunodeficiencies;Pediatric Hematology/Oncology and Immunopathology;2021-01-11
4. Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-11-09
5. Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method;BioMed Research International;2020-09-28
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