De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
2020 · Genetics in Medicine · 37 citations
https://doi.org/10.1038/s41436-020-01040-6
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Jolien S. Klein Wassink‐Ruiter is an academic researcher from University Medical Center Groningen. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases. The author has an h-index of 16, co-authored 23 publications.
https://doi.org/10.1038/s41436-020-01040-6
https://doi.org/10.1016/j.gimo.2024.101873
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