Ahmad N - Search Results

1

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Shabbir RMK, et al. Among authors: ahmad n. J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7. J Med Genet. 2018. PMID: 29514872

2

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: ahmad n. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205

3

Novel EDAR mutation in tooth agenesis and variable associated features.

Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Mumtaz S, et al. Among authors: ahmad n. Eur J Med Genet. 2020 Sep;63(9):103926. doi: 10.1016/j.ejmg.2020.103926. Epub 2020 Apr 20. Eur J Med Genet. 2020. PMID: 32325225

4

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M. Siddiqi S, et al. Among authors: ahmad n. J Hum Genet. 2013 Dec;58(12):819-21. doi: 10.1038/jhg.2013.101. Epub 2013 Oct 31. J Hum Genet. 2013. PMID: 24172246

5

Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.

Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M. Rahman SB, et al. Among authors: ahmad n. Congenit Anom (Kyoto). 2019 May;59(3):93-98. doi: 10.1111/cga.12303. Epub 2018 Jul 18. Congenit Anom (Kyoto). 2019. PMID: 29935003 Free PMC article.

6

In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.

Nasir M, Ahmad N, Sieber CM, Latif A, Malik SA, Hameed A. Nasir M, et al. Among authors: ahmad n. J Biomed Sci. 2013 Sep 24;20(1):70. doi: 10.1186/1423-0127-20-70. J Biomed Sci. 2013. PMID: 24063568 Free PMC article.

7

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.

Nasir M, Rahman SB, Sieber CM, Mir A, Latif A, Ahmad N, Malik SA, Hameed A. Nasir M, et al. Among authors: ahmad n. Mol Biol Rep. 2014;41(4):2085-92. doi: 10.1007/s11033-014-3057-1. Epub 2014 Jan 12. Mol Biol Rep. 2014. PMID: 24413997

8

Study of PKRBD in HCV genotype 3a infected patients in response to interferon therapy in Pakistani population.

Mansoor A, Ali L, Sabah NU, Hashmi AH, Khan MH, Kazmi SA, Ahmad N, Siddiqi S, Khan KM. Mansoor A, et al. Among authors: ahmad n. Virol J. 2013 Dec 9;10:352. doi: 10.1186/1743-422X-10-352. Virol J. 2013. PMID: 24321105 Free PMC article.

9

Patient HLA-DRB1* and -DQB1* allele and haplotype association with hepatitis C virus persistence and clearance.

Ali L, Mansoor A, Ahmad N, Siddiqi S, Mazhar K, Muazzam AG, Qamar R, Khan KM. Ali L, et al. Among authors: ahmad n. J Gen Virol. 2010 Aug;91(Pt 8):1931-1938. doi: 10.1099/vir.0.018119-0. Epub 2010 Apr 14. J Gen Virol. 2010. PMID: 20392899

10

Health-SigQOLM is a versatile scale for measuring various aspects of health-related quality of life.

Bujang MA, Lai WH, Ratnasingam S, Tiong XT, Hon YK, Yap EPP, Jee YYH, Ahmad NFD, Kim ARJ, Husin M. Bujang MA, et al. Among authors: ahmad nfd. BMC Res Notes. 2024 Jun 13;17(1):162. doi: 10.1186/s13104-024-06823-7. BMC Res Notes. 2024. PMID: 38872199 Free PMC article.

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