A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
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4. PCR buffer optimization with uniform temperature regimen to facilitate automation.
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1. Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system;Molecular Biology Reports;2020-09
2. Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression;Journal of Pediatric Genetics;2020-08-20
3. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication;Molecular Cytogenetics;2019-12
4. A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization;Current Genomics;2018-02-20
5. SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester;European Journal of Human Genetics;2018-01-12
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