Lee K - Search Results

1

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Among authors: lee k. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.

2

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

Irshad S, Santos RL, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM. Irshad S, et al. Among authors: lee k. Clin Genet. 2005 Sep;68(3):262-7. doi: 10.1111/j.1399-0004.2005.00492.x. Clin Genet. 2005. PMID: 16098016 Free PMC article.

3

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. Santos RL, et al. Among authors: lee k. Hum Mutat. 2005 Oct;26(4):396. doi: 10.1002/humu.9374. Hum Mutat. 2005. PMID: 16134132 Free PMC article.

4

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. Hassan MJ, et al. Among authors: lee k. Hum Genet. 2006 Jan;118(5):605-10. doi: 10.1007/s00439-005-0079-8. Epub 2005 Oct 29. Hum Genet. 2006. PMID: 16261342 Free PMC article.

5

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R. El-Shanti H, et al. Among authors: lee k. Brain Dev. 2006 Jul;28(6):353-7. doi: 10.1016/j.braindev.2005.11.003. Epub 2006 Jan 10. Brain Dev. 2006. PMID: 16376507 Free PMC article.

6

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. Santos RL, et al. Among authors: lee k. J Mol Med (Berl). 2006 Mar;84(3):226-31. doi: 10.1007/s00109-005-0015-3. Epub 2005 Dec 31. J Mol Med (Berl). 2006. PMID: 16389551 Free PMC article.

7

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. Naeem M, et al. Among authors: lee k. J Med Genet. 2006 Mar;43(3):274-9. doi: 10.1136/jmg.2005.033381. J Med Genet. 2006. PMID: 16525032 Free PMC article.

8

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. Tariq A, et al. Among authors: lee k. J Mol Med (Berl). 2006 Jun;84(6):484-90. doi: 10.1007/s00109-005-0023-3. Epub 2006 May 4. J Mol Med (Berl). 2006. PMID: 16596430 Free PMC article.

9

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.

Ali G, Santos RL, John P, Wambangco MA, Lee K, Ahmad W, Leal S. Ali G, et al. Among authors: lee k. Clin Genet. 2006 May;69(5):429-33. doi: 10.1111/j.1399-0004.2006.00611.x. Clin Genet. 2006. PMID: 16650082 Free PMC article.

10

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE Jr, Wambangco MA, Ahmad W, Leal SM. Santos RL, et al. Among authors: lee k. Hum Genet. 2006 Aug;120(1):85-92. doi: 10.1007/s00439-006-0188-z. Epub 2006 May 16. Hum Genet. 2006. PMID: 16703383 Free PMC article.

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