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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 1
2005 1
2006 2
2007 1
2008 2
2010 1
2011 12
2012 6
2013 2
2014 10
2015 5
2016 6
2017 2
2018 3
2019 1
2020 2
2021 5
2022 1
2023 3
2024 0

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53 results

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Page 1
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Among authors: yanagihara k. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K. Nabatame S, et al. Among authors: yanagihara k. J Neurol Sci. 2023 Apr 15;447:120597. doi: 10.1016/j.jns.2023.120597. Epub 2023 Mar 2. J Neurol Sci. 2023. PMID: 36965413 Free article.
Clinical impacts of genomic copy number gains at Xq28.
Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, Imai K, Okamoto N. Yamamoto T, et al. Among authors: yanagihara k. Hum Genome Var. 2014 Jul 24;1:14001. doi: 10.1038/hgv.2014.1. eCollection 2014. Hum Genome Var. 2014. PMID: 27081496 Free PMC article. Review.
Use of Liquid Biopsy to Detect PIK3CA Mutation in Metastatic Breast Cancer.
Nakai M, Yamada T, Sekiya K, Sato A, Hankyo M, Kuriyama S, Takahashi G, Kurita T, Yanagihara K, Yoshida H, Ohashi R, Takei H. Nakai M, et al. Among authors: yanagihara k. J Nippon Med Sch. 2022 Mar 11;89(1):66-71. doi: 10.1272/jnms.JNMS.2022_89-107. Epub 2021 Mar 9. J Nippon Med Sch. 2022. PMID: 33692304 Free article.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: yanagihara k. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
53 results