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Page 1
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: murakami y. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Record CJ, et al. Among authors: murakami y. Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print. Ann Neurol. 2024. PMID: 39444079
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: murakami y. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Finding the Right Hepatic Artery Branching from the Gastroduodenal Artery in a Patient Undergoing Gastrectomy: A Rare Case of an Anatomical Variant.
Shimizu S, Matsunaga T, Takahashi T, Sakano Y, Shishido Y, Miyatani K, Kono Y, Murakami Y, Hanaki T, Kihara K, Yamamoto M, Tokuyasu N, Takano S, Sakamoto T, Hasegawa T, Fujiwara Y. Shimizu S, et al. Among authors: murakami y. Yonago Acta Med. 2024 Sep 15;67(4):355-357. doi: 10.33160/yam.2024.11.002. eCollection 2024 Nov. Yonago Acta Med. 2024. PMID: 39583767 Free PMC article.
Impact of microgravity and lunar gravity on murine skeletal and immune systems during space travel.
Okamura Y, Gochi K, Ishikawa T, Hayashi T, Fuseya S, Suzuki R, Kanai M, Inoue Y, Murakami Y, Sadaki S, Jeon H, Hayama M, Ishii H, Tsunakawa Y, Ochi H, Sato S, Hamada M, Abe C, Morita H, Okada R, Shiba D, Muratani M, Shinohara M, Akiyama T, Kudo T, Takahashi S. Okamura Y, et al. Among authors: murakami y. Sci Rep. 2024 Nov 20;14(1):28774. doi: 10.1038/s41598-024-79315-0. Sci Rep. 2024. PMID: 39567640 Free PMC article.
4,140 results