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Quoted phrase not found in phrase index: "Ritscher-Schinzel syndrome 2"
Page 1
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Mol Med Rep. 2019 May;19(5):3831-3840. doi: 10.3892/mmr.2019.10043. Epub 2019 Mar 15.
Mol Med Rep. 2019.
PMID: 30896870
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Beadchip, while information on other gene mutations was obtained from targeted sequencing. The functions of gene mutations were then predict …
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Bea …
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome.
Al-Achkar W, Wafa A, Jarjour RA.
Al-Achkar W, et al.
Am J Med Genet A. 2011 Mar;155A(3):648-51. doi: 10.1002/ajmg.a.33742. Epub 2011 Feb 18.
Am J Med Genet A. 2011.
PMID: 21337688
No abstract available.
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