PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
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