Showing results (1-10 of 17) with videos related to
Sort By:
Pageof 2
Human Genome Variation|August 18, 2021
Intellectual disability and microcephaly associated with a novel CHAMP1 mutationYuta Asakura, Hitoshi Osaka, Hiromi Aoi, et al.International Journal of Cancer|November 28, 2002
An association of Bcl-2 phosphorylation and Bax localization with their functions after hyperthermia and paclitaxel treatmentAlaa-Eldin Salah-Eldin, Shoichi Inoue, Shigeki Tsukamoto, et al.Brain & Development|June 6, 2021
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variantYoshie Sakurai, Tatsuya Watanabe, Yuki Abe, et al.Journal of the American Chemical Society|November 6, 2023
Control of One-Handed Helicity in Polyacetylenes: Impact of an Extremely Small Amount of Chiral SubstituentsTomoyuki Ikai, Yuki Morita, Tsuyoshi Majima, et al.Clinical Genetics|January 16, 2023
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorderEri Imagawa, Rie Seyama, Hiromi Aoi, et al.Journal of Human Genetics|February 16, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.Human Genome Variation|October 5, 2020
Nonsense variants of STAG2 result in distinct congenital anomaliesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.Journal of Human Genetics|June 16, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.European Journal of Medical Genetics|August 15, 2024
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansionEduardo Da Cás, Lucas V L Pires, Bianca D W Linnenkamp, et al.BMC Ophthalmology|October 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variantsThainá Vilella, Beatriz Carvalho Nunes, Giulia Steuernagel Del Valle, et al.Pageof 2