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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Vetrini F, et al. Among authors: rijhsinghani a. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616478 Free PMC article.
Prenatal ultrasound diagnosis of amelia.
Rijhsinghani A, Yankowitz J, Mazursky J, Williamson R. Rijhsinghani A, et al. Prenat Diagn. 1995 Jul;15(7):655-9. doi: 10.1002/pd.1970150711. Prenat Diagn. 1995. PMID: 8532626
Prenatal diagnosis of Apert syndrome.
Hansen WF, Rijhsinghani A, Grant S, Yankowitz J. Hansen WF, et al. Among authors: rijhsinghani a. Fetal Diagn Ther. 2004 Mar-Apr;19(2):127-30. doi: 10.1159/000075135. Fetal Diagn Ther. 2004. PMID: 14764955
47 results