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- 2023
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Mark
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
(
- Contribution to journal › Article
- 2022
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Mark
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
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- Contribution to journal › Article
- 2020
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Mark
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
(
- Contribution to journal › Article
- 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
(
- Contribution to journal › Article
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Mark
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
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- Contribution to journal › Article
- 2017
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Mark
Self-assessed remission rates after electroconvulsive therapy of depressive disorders
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- Contribution to journal › Article
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Mark
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
(
- Contribution to journal › Article
- 2015
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Mark
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.
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- Contribution to journal › Article
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Mark
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
(
- Contribution to journal › Article
- 2014
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Mark
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
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- Contribution to journal › Article
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Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
(
- Contribution to journal › Article
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Mark
Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
(
- Contribution to journal › Article
- 2012
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Mark
Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci
(
- Contribution to journal › Article
- 2010
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Mark
Livslång uppföljning krävs vid medfödd missbildning.
(
- Contribution to journal › Scientific review
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Mark
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
(
- Contribution to journal › Article
- 2006
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Mark
Frequent finding of the androgen receptor A645D variant in normal population.
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- Contribution to journal › Article
- 2005
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Mark
The RsaI polymorphism in the ER{beta} gene is associated with male infertility.
(
- Contribution to journal › Article
- 2004
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Mark
GENOME-WIDE LINKAGE ANALYSIS FOR HYPOSPADIAS SUSCEPTIBILITY GENES.
(
- Contribution to journal › Article
- 2002
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Mark
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
(
- Contribution to journal › Article