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Results: 1-4 |
Results: 4
Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
Authors: Walsh, Tom Shahin, Hashem Elkan-Miller, Tal Lee, Ming K. Kanaan, Moien
Citation: Walsh, Tom et al., Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 90-94
Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51
Authors: Walsh, Tom Pierce, Sarah B. Lenz, Danielle R. Brownstein, Zippora Avraham, Karen B.
Citation: Walsh, Tom et al., Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 101-109
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Authors: Pierce, Sarah B. Walsh, Tom Chisholm, Karen M. Lee, Ming K. King, Mary-Claire
Citation: B. Pierce, Sarah et al., Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 282-288
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
Authors: Sirmaci, Asli Walsh, Tom Akay, Hatice Spiliopoulos, Michail Tekin, Mustafa
Citation: Sirmaci, Asli et al., MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 679-686
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