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Items: 2

1.

Turner syndrome in diverse populations.

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.

Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19.

PMID:
31854143
2.

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.

Sihombing NRB, de Leeuw N, van Bokhoven H, Faradz SM.

BMJ Case Rep. 2019 Aug 30;12(8). pii: e230941. doi: 10.1136/bcr-2019-230941.

PMID:
31473642

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