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Population genetics: past, present, and future.
Okazaki A, Yamazaki S, Inoue I, Ott J. Okazaki A, et al. Hum Genet. 2021 Feb;140(2):231-240. doi: 10.1007/s00439-020-02208-5. Epub 2020 Jul 18. Hum Genet. 2021. PMID: 32683493 Free PMC article. Review.
A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.
Kaimori JY, Kikkawa Y, Motooka D, Namba-Hamano T, Takuwa A, Okazaki A, Kobayashi K, Tanigawa A, Kotani Y, Uno Y, Yoshimi K, Hattori K, Asahina Y, Kajimoto S, Doi Y, Oka T, Sakaguchi Y, Mashimo T, Sekiguchi K, Nakaya A, Nomizu M, Isaka Y. Kaimori JY, et al. Among authors: okazaki a. JCI Insight. 2022 Dec 8;7(23):e158378. doi: 10.1172/jci.insight.158378. JCI Insight. 2022. PMID: 36173685 Free PMC article.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: okazaki a. Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi: 10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36061954 Free PMC article.
11 results