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Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review.
Tangshewinsirikul C, Dulyaphat W, Tim-Aroon T, Parinayok R, Chareonsirisuthigul T, Korkiatsakul V, Waisayarat J, Sirisreetreerux P, Tingthanatikul Y, Wattanasirichaigoon D. Tangshewinsirikul C, et al. J Pediatr Genet. 2020 Dec;9(4):221-226. doi: 10.1055/s-0040-1713002. Epub 2020 Jun 17. J Pediatr Genet. 2020. PMID: 32733741 Free PMC article.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: tangshewinsirikul c. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
Feasibility and learning curve of performing first trimester fetal anatomy screening among operators with varying experience using the protocol of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG).
Sripilaipong S, Panburana P, Wattanayingcharoenchai R, Tangshewinsirikul C. Sripilaipong S, et al. Among authors: tangshewinsirikul c. J Matern Fetal Neonatal Med. 2022 Dec;35(25):8691-8697. doi: 10.1080/14767058.2021.1998442. Epub 2021 Nov 3. J Matern Fetal Neonatal Med. 2022. PMID: 34732088
15 results