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- 2019
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Mark
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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- Contribution to journal › Article
- 2014
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Mark
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
(
- Contribution to journal › Article
- 2011
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Mark
High-resolution genomic profiling of male breast cancer reveals differences hidden behind the similarities with female breast cancer
(
- Contribution to journal › Article
- 2010
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Mark
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
(
- Contribution to journal › Article
- 2007
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Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
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- Contribution to journal › Article
- 2005
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Mark
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb
(
- Contribution to journal › Article