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Table 1. [Molecular Genetic Testing Used in Gabriele-de Vries Syndrome].

www.ncbi.nlm.nih.gov › NBK541730
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
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Gabriele-de Vries Syndrome - GeneReviews® - NCBI Bookshelf

www.ncbi.nlm.nih.gov › NBK541730
30.05.2019 · The diagnosis of Gabriele-de Vries syndrome is established in a proband who has one of the following on molecular genetic testing (see Table 1):.
Es fehlt: molecular_genetic_tes/ | Suchen mit:molecular_genetic_tes/

Table A. [Gabriele-de Vries Syndrome: Genes and Databases].

www.ncbi.nlm.nih.gov › NBK541730
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. Yang J, Yu C, Lyn N, Liu L, Li D, Shang Q. Mol Genet Genomic Med.
Es fehlt: T. molecular_genetic_tes/

Gabriele de Vries syndrome - NIH Genetic Testing Registry (GTR)

www.ncbi.nlm.nih.gov › gtr › conditions
Clinical resource with information about Gabriele de Vries syndrome and its clinical features, YY1, available genetic tests from US and labs around the ...
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Table 2. [Recommended Evaluations Following Initial Diagnosis of ... - NCBI

www.ncbi.nlm.nih.gov › books › table
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, Zhao P, Gu W, ...
Es fehlt: q= molecular_genetic_tes/

Gabriele-de Vries Syndrome - PubMed

pubmed.ncbi.nlm.nih.gov › ...
30.05.2019 · Bookshelf ID: NBK541730. Excerpt. Clinical characteristics: Gabriele-de Vries syndrome is characterized by mild-to-profound developmental ...
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Entry - #617557 - GABRIELE-DE VRIES SYNDROME; GADEVS - OMIM

www.omim.org › entry
Gabriele-de Vries syndrome (GADEVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, ...
Es fehlt: q= nlm. nih. gov/ books/ NBK541730/ molecular_genetic_tes/

Joubert Syndrome - GeneReviews® - NCBI Bookshelf

www.ncbi.nlm.nih.gov › NBK1325
09.07.2003 · See Table 1a for the most common genetic causes of JS (i.e., pathogenic variants of any one of the genes included in this table account for >1% ...
Es fehlt: NBK541730/ devries. molecular_genetic_tes/
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