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A patient developed diabetes with a 1.58-Mb Chr17q12 microdeletion
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2020-01-14
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Additional file 4: of Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions
Table S2. Probe list of group 1. (XLSX 102 kb)
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WP5348 - 11p11.2 copy number variation syndrome - Homo sapiens
The molecular pathways of genes located at the region 11p11.2. A deletion in 11p11.2 can cause the Potocki-Shaffer syndrome (MIM # 601224) which is characterised by malformations in the heart, kidney
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Molecular findings of study subjects with 20q13.33 microdeletion.
Molecular findings of study subjects with 20q13.33 microdeletion.
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Supplementary Material for: Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
By array-CGH, we identified a cryptic deletion of about 3.4 Mb involving the chromosomal region 11q13.2q13.4 in a child with speech and developmental delay. Highly homologous segmental duplications re
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Supplementary Data 2 for "A Novel Phenotype of 13q12.3 Microdeletion Characterized by Epilepsy in an Asian Child: A Case Report"
The exome sequencing and single nucleotide polymorphism (SNP) array analysis of a 13q12.3 Microdeletion child.
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