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Prenatal, perinatal, and environmental risk factors contribute to the high prevalence of autism spectrum disorder in northeastern Bangladesh
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- Journal Article
- A1
- open access
Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum
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Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
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- Journal Article
- A1
- open access
The ABCC6 transporter as a paradigm for networking from an orphan disease to complex disorders
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Novel insights in the pathogenesis of pseudoxanthoma elasticum
(2015) -
- Journal Article
- A1
- open access
Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum
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Pseudoxanthome élastique (PXE) associé à un digénisme ABCC6/GCCX
(2014) ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE. In Annales de Dermatologie et de Vénéréologie 141(12, Supplement). p.S368-S368