Sher M - Search Results

1

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Among authors: sher m. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086

2

Genetic heterogeneity in Pakistani microcephaly families revisited.

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P. Ahmad I, et al. Among authors: sher m. Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28004384

3

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Klar J, Piontek J, Milatz S, Tariq M, Jameel M, Breiderhoff T, Schuster J, Fatima A, Asif M, Sher M, Mäbert K, Fromm A, Baig SM, Günzel D, Dahl N. Klar J, et al. Among authors: sher m. PLoS Genet. 2017 Jul 7;13(7):e1006897. doi: 10.1371/journal.pgen.1006897. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28686597 Free PMC article.

4

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, Baig SM. Faryal S, et al. Among authors: sher m. Eur J Med Genet. 2021 Jul;64(7):104226. doi: 10.1016/j.ejmg.2021.104226. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33872773 Review.

5

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM. Sher M, et al. Int J Neurosci. 2019 Sep;129(9):890-895. doi: 10.1080/00207454.2019.1586686. Epub 2019 Mar 20. Int J Neurosci. 2019. PMID: 30892110

6

Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.

Zulfiqar S, Tariq M, Ramzan S, Khan A, Sher M, Ali Z, Dahl N, Abdullah U, Mahmood Baig S. Zulfiqar S, et al. Among authors: sher m. J Clin Neurosci. 2021 Dec;94:8-12. doi: 10.1016/j.jocn.2021.09.027. Epub 2021 Sep 30. J Clin Neurosci. 2021. PMID: 34863467

7

Effects of pre-operative isolation on postoperative pulmonary complications after elective surgery: an international prospective cohort study.

COVIDSurg Collaborative; GlobalSurg Collaborative. COVIDSurg Collaborative, et al. Anaesthesia. 2021 Nov;76(11):1454-1464. doi: 10.1111/anae.15560. Epub 2021 Aug 9. Anaesthesia. 2021. PMID: 34371522 Free article. Clinical Trial.

8

Timing of surgery following SARS-CoV-2 infection: an international prospective cohort study.

COVIDSurg Collaborative; GlobalSurg Collaborative. COVIDSurg Collaborative, et al. Anaesthesia. 2021 Jun;76(6):748-758. doi: 10.1111/anae.15458. Epub 2021 Mar 9. Anaesthesia. 2021. PMID: 33690889 Free PMC article.

9

SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study.

COVIDSurg Collaborative; GlobalSurg Collaborative. COVIDSurg Collaborative, et al. Anaesthesia. 2022 Jan;77(1):28-39. doi: 10.1111/anae.15563. Epub 2021 Aug 24. Anaesthesia. 2022. PMID: 34428858 Free PMC article.

10

Pulmonary vascular disease in complete atrioventricular canal defect.

Newfeld EA, Sher M, Paul MH, Nikaidoh H. Newfeld EA, et al. Among authors: sher m. Am J Cardiol. 1977 May 4;39(5):721-6. doi: 10.1016/s0002-9149(77)80135-5. Am J Cardiol. 1977. PMID: 67798

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