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1.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Article
in English
| MEDLINE | ID: mdl-37807935
2.
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
BMC Med Genet
; 14: 50, 2013 May 07.
Article
in English
| MEDLINE | ID: mdl-23648064
3.
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Diagnostics (Basel)
; 13(21)2023 Oct 24.
Article
in English
| MEDLINE | ID: mdl-37958189
4.
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Am J Med Genet A
; 155A(10): 2479-83, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21910219
5.
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Mol Cytogenet
; 8: 106, 2015.
Article
in English
| MEDLINE | ID: mdl-26719771
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