Kwanghyuk Lee

Kwanghyuk Lee

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Kwanghyuk Lee

Kwanghyuk Lee

Publications by authors named "Kwanghyuk Lee"

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53Publications

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A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

Ann Hum Genet 2018 05 10;82(3):129-134. Epub 2018 Jan 10.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/ahg.12233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141004PMC
May 2018

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Genet Res Int 2011 1;2011:294675. Epub 2011 Nov 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.4061/2011/294675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335613PMC
August 2012

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Genet Res Int 2011 25;2011:368915. Epub 2011 Sep 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tx 77030, USA.

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http://dx.doi.org/10.4061/2011/368915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335572PMC
August 2012

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Am J Med Genet A 2012 Feb 13;158A(2):315-21. Epub 2012 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276114PMC
February 2012

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

J Hum Genet 2011 Dec 22;56(12):866-8. Epub 2011 Sep 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245365PMC
December 2011

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Hum Genet 2011 Apr 22;129(4):379-85. Epub 2010 Dec 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.

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http://dx.doi.org/10.1007/s00439-010-0934-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312604PMC
April 2011

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Am J Hum Genet 2011 Jan 23;88(1):19-29. Epub 2010 Dec 23.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and the Department of Otolaryngology, College of Medicine, University of Cincinnati, OH, 45229 USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014371PMC
January 2011

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Invest Ophthalmol Vis Sci 2009 Apr 14;50(4):1531-9. Epub 2008 Nov 14.

Basic Medical Sciences Program, Washington, Wyoming, Alaska, Montana, and Idaho, Washington State University, Spokane, Washington 99210-1495, USA.

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http://dx.doi.org/10.1167/iovs.08-2173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547351PMC
April 2009

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

Hum Genet 2006 Aug 16;120(1):85-92. Epub 2006 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619.01, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-006-0188-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909094PMC
August 2006

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

Brain Dev 2006 Jul 10;28(6):353-7. Epub 2006 Jan 10.

Department of Pediatrics, Division of Medical Genetics, University of Iowa, UIHC, 2615 JCP, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.braindev.2005.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143173PMC
July 2006

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

J Mol Med (Berl) 2006 Mar 31;84(3):226-31. Epub 2005 Dec 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek N1619.01, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00109-005-0015-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909111PMC
March 2006