Khan S - Search Results

1

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).

Umair M, Khan A, Hayat A, Abbas S, Asiri A, Younus M, Amin W, Nawaz S, Khan S, Malik E, Alfadhel M, Ahmad F. Umair M, et al. Among authors: khan s, khan a. Front Pediatr. 2019 Aug 28;7:343. doi: 10.3389/fped.2019.00343. eCollection 2019. Front Pediatr. 2019. PMID: 31555621 Free PMC article.

2

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A. Khan S, et al. BMC Med Genet. 2019 Dec 18;20(1):199. doi: 10.1186/s12881-019-0907-7. BMC Med Genet. 2019. PMID: 31852446 Free PMC article.

3

Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26.

Ullah A, Lin Z, Younus M, Shafiq S, Khan S, Rasheed M, Mahmood A, Alqosaibi AI, Alshehri MA, Khan A, Umair M. Ullah A, et al. Among authors: khan s, khan a. J Gene Med. 2022 Apr;24(4):e3412. doi: 10.1002/jgm.3412. Epub 2022 Feb 7. J Gene Med. 2022. PMID: 35075722

4

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

Khan S, Umair M, Abbas S, Ali U, Zaman G, Ansar M, Wang R, Zhang X, Houlden H, Harlalka GV, Gul A. Khan S, et al. J Gene Med. 2023 Oct;25(10):e3513. doi: 10.1002/jgm.3513. Epub 2023 May 13. J Gene Med. 2023. PMID: 37178061

5

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M. Nawaz H, et al. Among authors: khan s, khan n, khan a, khan sa. Genes (Basel). 2023 May 19;14(5):1113. doi: 10.3390/genes14051113. Genes (Basel). 2023. PMID: 37239474 Free PMC article.

6

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, Crosby AH, Baple EL, Gul A. Khan S, et al. Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7. Ann Hum Genet. 2019. PMID: 31173343

7

c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.

Ullah A, Syed F, Khan S. Ullah A, et al. Among authors: khan s. Pak J Med Sci. 2023 Jul-Aug;39(4):1124-1128. doi: 10.12669/pjms.39.4.6926. Pak J Med Sci. 2023. PMID: 37492301 Free PMC article.

8

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, McGavin L, Rowley C, Harlalka GV, Vancollie VE, Ahmad W, Lelliott CJ, Gul A, Yalcin B, Crosby AH, Sacher M, Baple EL. Rawlins LE, et al. Among authors: khan s, khan v. PLoS Genet. 2022 Mar 17;18(3):e1010114. doi: 10.1371/journal.pgen.1010114. eCollection 2022 Mar. PLoS Genet. 2022. PMID: 35298461 Free PMC article.

9

CUX1 regulates human hematopoietic stem cell chromatin accessibility via the BAF complex.

Liu W, Kurkewich JL, Stoddart A, Khan S, Anandan D, Gaubil AN, Wolfgeher DJ, Jueng L, Kron SJ, McNerney ME. Liu W, et al. Among authors: khan s. Cell Rep. 2024 May 11;43(5):114227. doi: 10.1016/j.celrep.2024.114227. Online ahead of print. Cell Rep. 2024. PMID: 38735044

10

Cardiovascular Burden of the V142I Transthyretin Variant.

Selvaraj S, Claggett B, Shah SH, Mentz RJ, Khouri MG, Manichaikul AW, Khan SS, Rich SS, Mosley TH, Levitan EB, Arora P, Goyal P, Haring B, Eaton CB, Cheng RK, Wells GL, Manson JE, Fontana M, Solomon SD. Selvaraj S, et al. Among authors: khan ss. JAMA. 2024 May 12. doi: 10.1001/jama.2024.4467. Online ahead of print. JAMA. 2024. PMID: 38734952

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

17,800 results

Search Page