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The studies may lead to a better understanding of MFS pathogenesis at the molecular level
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2021-04-05
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The molecular role of teneurin-3 in microphthalmia
Teneurins are synaptic adhesion receptor proteins that act as guidance cues for proper integration of neurons in the brain and the visual system. The Arg2563Trp missense mutation in the gene encoding
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Additional file 2: of The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome
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Convergent transcriptomic signatures across brain structures in eating disorders and obsessive compulsive disorder
The objective of this study was to delineate the transcriptomic landscapes of the caudate and dorsolateral prefrontal cortex (DLFPC) in individuals with ED and OCD to identify common and distinct mole
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Overview of 9 disorders tested with their corresponding chromosome number, the mutation, the effect, the inheritance, the breeds where the mutation has been reported before and the animal model.
CFA = chromosome number; AR = autosomal recessive, XR = X-linked recessive, MP = multifactorial; MS = missense, SP = splice variant, FS = frame shift, ES = exon skipping, SINE = short interspersed ele
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Molecular assessment of familial skin fibrosis
This project is about exploring the inheritance of fibrotic lumps within the skin. We have identified two pedigrees with autosomal dominant inheritance pattern indicating a mendelian segregation in so
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