Ahmad J - Search Results

1

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J. Hussain R, et al. Among authors: ahmad j, ahmad a. Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5. Mol Biol Rep. 2012. PMID: 22219087

2

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Among authors: ahmad j. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

3

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G. Kakar N, et al. Among authors: ahmad j, ahmad a. Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22989526

4

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J. Baloch AH, et al. Among authors: ahmad j, ahmad a. Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4. Mol Biol Rep. 2014. PMID: 24390236

5

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

Shah SA, Din SU, Raheem N, Daud S, Mubeen J, Nadeem A, Tayyab M, Baloch DM, Babar ME, Ahmad J. Shah SA, et al. Among authors: ahmad j. Clin Exp Dermatol. 2014 Jul;39(5):646-8. doi: 10.1111/ced.12382. Clin Exp Dermatol. 2014. PMID: 24934919

6

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J. Shah SA, et al. Among authors: ahmad j. Clin Exp Dermatol. 2015 Oct;40(7):774-80. doi: 10.1111/ced.12612. Epub 2015 Feb 22. Clin Exp Dermatol. 2015. PMID: 25703744

7

Various aspects, patterns and risk factors in breast cancer patients of Balochistan.

Baloch AH, Shuja J, Daud S, Ahmed M, Ahmad A, Tareen M, Khan F, Kakar MA, Baloch DM, Kakar N, Naseeb HK, Ahmad J. Baloch AH, et al. Among authors: ahmad j, ahmad a. Asian Pac J Cancer Prev. 2012;13(8):4013-6. doi: 10.7314/apjcp.2012.13.8.4013. Asian Pac J Cancer Prev. 2012. PMID: 23098509 Free article.

8

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Graul-Neumann LM, et al. Among authors: ahmad j. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129431 Free PMC article.

9

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G. Daud S, et al. Among authors: ahmad j. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26751646

10

Prevalence of hepatitis C virus (HCV) genotypes in Balochistan.

Afridi S, Naeem M, Hussain A, Kakar N, Babar ME, Ahmad J. Afridi S, et al. Among authors: ahmad j. Mol Biol Rep. 2009 Jul;36(6):1511-4. doi: 10.1007/s11033-008-9342-0. Epub 2008 Sep 3. Mol Biol Rep. 2009. PMID: 18766467

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