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Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.Brain & Development|January 13, 2021
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variantsYu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, et al.The Journal of Allergy and Clinical Immunology. Global|July 21, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiencySanami Takada, Tsubasa Okano, Kay Tanita, et al.Epilepsia Open|June 7, 2021
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case seriesShimpei Baba, Tohru Okanishi, Yoichiro Homma, et al.American Journal of Human Genetics|May 25, 2010
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delayHirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, et al.Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.Pageof 6