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Page 1
Ayme gripp syndrome in an Indian patient.
Chaudhry C, Kaur P, Srivastava P, Kaur A. Chaudhry C, et al. Among authors: kaur a, kaur p. Am J Med Genet A. 2021 Apr;185(4):1312-1316. doi: 10.1002/ajmg.a.62053. Epub 2021 Jan 1. Am J Med Genet A. 2021. PMID: 33528093
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: kaur a. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Wolf-Hirschhorn syndrome: A case series from India.
Chaudhry C, Kaur A, Panigrahi I, Kaur A. Chaudhry C, et al. Among authors: kaur a. Am J Med Genet A. 2020 Dec;182(12):3048-3051. doi: 10.1002/ajmg.a.61856. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32914558
Fluctuating weakness: clue in the eyes!
Kaur A, Chaudhry C, Mehta A, Kaur A. Kaur A, et al. BMJ Case Rep. 2020 Dec 28;13(12):e239211. doi: 10.1136/bcr-2020-239211. BMJ Case Rep. 2020. PMID: 33372023 Free PMC article. No abstract available.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: kaur a, kaur p. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Epigenetics in Kawasaki Disease.
Sharma K, Vignesh P, Srivastava P, Sharma J, Chaudhary H, Mondal S, Kaur A, Kaur H, Singh S. Sharma K, et al. Among authors: kaur a, kaur h. Front Pediatr. 2021 Jun 25;9:673294. doi: 10.3389/fped.2021.673294. eCollection 2021. Front Pediatr. 2021. PMID: 34249810 Free PMC article. Review.
2,571 results