30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
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What is Gabriele de Vries syndrome?
What is the Koolen de Vries syndrome?
[Gabriele-de Vries Syndrome: Genes and Databases]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541730/table/gabriele-devries.molgen.TA/. Making ...
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. Tan L, Li Y, Liu F, Huang Y, Luo S, ...
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. · A 9-month-old Chinese patient with Gabriele-de Vries syndrome due ...
Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene.
30.05.2019 · PDF | Clinical characteristics Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability ...
13.03.2023 · Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha ...
Figure 1: Tiers of Reproductive Phenotypes in CS Genes. The 49 CS genes were sorted into 3 tiers based on evidence of reproductive phenotypes in the ...
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Es fehlt: gabriele. q= NBK541730/