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A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
Int J Dev Neurosci. 2023 Apr;83(2):191-200. doi: 10.1002/jdn.10247. Epub 2022 Dec 30.
Int J Dev Neurosci. 2023.
PMID: 36527195
Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.
Afsar T, Fu H, Khan H, Ali Z, Zehri Z, Zaman G, Abbas S, Mahmood A, Alam Q, Hu J, Razak S, Umair M.
Afsar T, et al. Among authors: zehri z.
Front Genet. 2024 Jan 12;14:1308116. doi: 10.3389/fgene.2023.1308116. eCollection 2023.
Front Genet. 2024.
PMID: 38283150
Free PMC article.
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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: zehri z.
Clin Genet. 2024 May 22. doi: 10.1111/cge.14550. Online ahead of print.
Clin Genet. 2024.
PMID: 38774940
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