High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
Last updated 12 abril 2025


Genes, Free Full-Text

Genes, Free Full-Text

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

IJMS, Free Full-Text

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future - Shaffer - 2007 - American Journal of Medical Genetics Part C: Seminars

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

PDF) Rubinstein-Taybi syndrome in diverse populations

CNV profiles of Chinese pediatric patients with developmental disorders - ScienceDirect

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Contemplating effects of genomic structural variation

Genes, Free Full-Text

PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
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