Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.
The first step in the development of such an assay was provided by the isolation and characterization of a set of 41 cosmid, P1 and PAC clones specific for all human subtelomeric chromosome ...
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Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked ...
This was corroborated by sequencing of exon 4 in 16 subjects with autistic disorder ... stretches of mosaic and juxtaposed sequences originating from different parts of chromosome 7 and other ...
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Jan. 16, 2025 — Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of ...
[44] Combining a limited karyotype with the more objective microarray data will allow for a clearer interpretation for any disease-causing chromosome abnormalities, if any, in the fetus undergoing ...
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