Mehdi SQ - Search Results

1

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. Forshew T, et al. Among authors: mehdi sq. Hum Genet. 2005 Sep;117(5):452-9. doi: 10.1007/s00439-005-1309-9. Epub 2005 Jun 16. Hum Genet. 2005. PMID: 15959809

2

Locus heterogeneity and Knobloch syndrome.

Joyce S, Tee L, Abid A, Khaliq S, Mehdi SQ, Maher ER. Joyce S, et al. Among authors: mehdi sq. Am J Med Genet A. 2010 Nov;152A(11):2880-1. doi: 10.1002/ajmg.a.33619. Am J Med Genet A. 2010. PMID: 20979194 No abstract available.

3

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS. Bessant DA, et al. Among authors: mehdi sq. Am J Hum Genet. 1998 May;62(5):1113-6. doi: 10.1086/301843. Am J Hum Genet. 1998. PMID: 9545413 Free PMC article.

4

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ. Khaliq S, et al. Among authors: mehdi sq. Am J Med Genet A. 2007 Dec 1;143A(23):2768-74. doi: 10.1002/ajmg.a.31739. Am J Med Genet A. 2007. PMID: 17975799

5

Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family.

Abid A, Akhtar N, Khaliq S, Mehdi SQ. Abid A, et al. Among authors: mehdi sq. J Coll Physicians Surg Pak. 2011 Apr;21(4):202-6. J Coll Physicians Surg Pak. 2011. PMID: 21453614

6

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. Prasov L, et al. Among authors: mehdi sq. Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645276 Free PMC article.

7

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

Bessant DA, Anwar K, Khaliq S, Hameed A, Ismail M, Payne AM, Mehdi SQ, Bhattacharya SS. Bessant DA, et al. Among authors: mehdi sq. Br J Ophthalmol. 1999 Aug;83(8):919-22. doi: 10.1136/bjo.83.8.919. Br J Ophthalmol. 1999. PMID: 10413693 Free PMC article.

8

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.

Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, Mehdi SQ, Newbold RJ, Ionides A, Shiels A, Moore T, Bhattacharya SS. Berry V, et al. Among authors: mehdi sq. Hum Genet. 1999 Jul-Aug;105(1-2):168-70. doi: 10.1007/s004399900094. Hum Genet. 1999. PMID: 10480374

9

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.

Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER. Forshew T, et al. Among authors: mehdi sq. Clin Genet. 2005 Aug;68(2):182-4. doi: 10.1111/j.1399-0004.2005.00460.x. Clin Genet. 2005. PMID: 15996218 No abstract available.

10

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.

Walsh DM, Shah SH, Simpson MA, Morgan NV, Khaliq S, Trembath RC, Mehdi SQ, Maher ER. Walsh DM, et al. Among authors: mehdi sq. Scientifica (Cairo). 2012;2012:649090. doi: 10.6064/2012/649090. Epub 2012 Dec 31. Scientifica (Cairo). 2012. PMID: 24278723 Free PMC article.

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