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Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W. Khan H, et al. J Hum Genet. 2022 May;67(5):253-259. doi: 10.1038/s10038-021-00995-x. Epub 2021 Dec 3. J Hum Genet. 2022. PMID: 34857885
A novel variant in AFF3 underlying isolated syndactyly.
Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S. Khan H, et al. Clin Genet. 2023 Mar;103(3):341-345. doi: 10.1111/cge.14254. Epub 2022 Nov 1. Clin Genet. 2023. PMID: 36273379
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM. Bilal M, et al. Among authors: khan h, khan mj. Eur J Hum Genet. 2023 Nov;31(11):1270-1274. doi: 10.1038/s41431-023-01450-5. Epub 2023 Sep 8. Eur J Hum Genet. 2023. PMID: 37684519
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W. Khan FU, et al. Among authors: khan iu, khan h, khan mj. Clin Genet. 2024 May 22. doi: 10.1111/cge.14550. Online ahead of print. Clin Genet. 2024. PMID: 38774940
3,658 results