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Human Reproduction (Oxford, England)|December 2, 2015
Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrestDaniel H Kort, Gloryn Chia, Nathan R Treff, et al.Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.Frontiers in Immunology|October 21, 2022
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disordersInna Tabansky, Akemi J Tanaka, Jiayao Wang, et al.American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.Pageof 2