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keisuke nichd
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Keisuke Nicho
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TULP2 deletion mice exhibit abnormal outer dense fiber structure and male infertility.
Reprod Med Biol. 2022 May 23;21(1):e12467. doi: 10.1002/rmb2.12467. eCollection 2022 Jan-Dec.
Reprod Med Biol. 2022.
PMID: 35619658
Free PMC article.
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M.
Elsharkawi I, et al.
J Inherit Metab Dis. 2023 Jan;46(1):92-100. doi: 10.1002/jimd.12565. Epub 2022 Oct 17.
J Inherit Metab Dis. 2023.
PMID: 36214423
Free PMC article.
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