Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

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John Wiley & Sons Inc

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A Transcription Map of the Digeorge and Velo-Ardio-Facial Syndrome Minimal Critical Region on 22q11

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Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 789-800

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Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition

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Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

By Shaikh Tamim H.  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 489-501

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