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Split hand-foot malformation and a novel WNT10B mutation.
Kantaputra PN, Kapoor S, Verma P, Intachai W, Ketudat Cairns JR. Kantaputra PN, et al. Among authors: kapoor s. Eur J Med Genet. 2018 Jul;61(7):372-375. doi: 10.1016/j.ejmg.2018.02.001. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29427788
An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi.
Verma P, Kapoor S, Kalaivani M, Vats P, Yadav S, Jain V, Thelma BK; Science and Engineering Research Board – Newborn Screening Initiative Group (SERB-NBS) members. Verma P, et al. Among authors: kapoor s. Indian Pediatr. 2019 Apr 15;56(4):281-286. Indian Pediatr. 2019. PMID: 31064895 Free article.
Novel mutation in a child with Goltz syndrome.
Kapoor S, Ghosh V, McGrath JA, Kochar AM, Kapoor H, Malik R. Kapoor S, et al. Among authors: kapoor h. Indian J Pediatr. 2012 Jan;79(1):120-3. doi: 10.1007/s12098-011-0513-y. Epub 2011 Jul 6. Indian J Pediatr. 2012. PMID: 21732017
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Leslie EJ, et al. Among authors: kapoor s. Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. Am J Med Genet A. 2015. PMID: 25691407 Free PMC article.
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS. Shaheen R, et al. Among authors: kapoor s. Hum Mol Genet. 2015 Sep 15;24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123494
2,107 results