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Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M, Khan HN, Ayesha H, Iqbal M, Tawab A, Irfan M, Kanhai W, Goorden SMI, Stroomer L, Salomons G, Vaz FM, Karnebeek CDMV, Awan FR. Wasim M, et al. Among authors: ayesha h. J Pediatr Endocrinol Metab. 2021 Dec 14;35(3):325-332. doi: 10.1515/jpem-2021-0508. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34905667
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM, Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA, Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani A, Lang J, Arslan M, Froguel P. Saeed S, et al. Among authors: ayesha h. Nat Genet. 2018 Feb;50(2):175-179. doi: 10.1038/s41588-017-0023-6. Epub 2018 Jan 8. Nat Genet. 2018. PMID: 29311637 Free article.
19 results