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Plos One|August 18, 2020
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypesDaisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, et al.HGG Advances|August 22, 2024
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patientsMasanori Fujimoto, Yuji Nakamura, Kana Hosoki, et al.Brain & Development|May 13, 2018
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhoodKohji Kato, Seiji Mizuno, Mie Inaba, et al.Human Genome Variation|April 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variantToshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi, et al.Brain & Development|September 13, 2017
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosumYuji Nakamura, Yasuko Togawa, Yusuke Okuno, et al.Human Genome Variation|October 25, 2019
A novel CUL4B splice site variant in a young male exhibiting less pronounced featuresYuji Nakamura, Yusuke Okuno, Hideki Muramatsu, et al.Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.Journal of Human Genetics|May 19, 2017
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.Brain & Development|February 17, 2018
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopeniaDaisuke Ieda, Ikumi Hori, Yuji Nakamura, et al.Journal of Medical Genetics|August 30, 2017
CTCF deletion syndrome: clinical features and epigenetic delineationIkumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, et al.Pageof 2