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Homozygosity mapping

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno

published 19 Jan 2017

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N. Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra

published 06 Jul 2015

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers

published 16 Mar 2015

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Mapping and Exome Sequencing Identifies a Mutation in the IARS Gene as the Cause of Hereditary Perinatal Weak Calf Syndrome

Takashi Hirano, Naohiko Kobayashi, Tamako Matsuhashi, Daisaku Watanabe, Toshio Watanabe, Akiko Takasuga, Mayumi Sugimoto, Yoshikazu Sugimoto

published 21 May 2013

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Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

Samer Khateb, Lina Zelinger, Tamar Ben-Yosef, Saul Merin, Ornit Crystal-Shalit, Menachem Gross, Eyal Banin, Dror Sharon

published 12 Dec 2012

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Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease

Javier Simón-Sánchez, Laura L. Kilarski, Michael A. Nalls, Maria Martinez, Claudia Schulte, Peter Holmans, International Parkinson's Disease Genomics Consortium , Wellcome Trust Case Control Consortium , Thomas Gasser, John Hardy, Andrew B. Singleton, Nicholas W. Wood, Alexis Brice, Peter Heutink, Nigel Williams, Huw R. Morris

published 12 Mar 2012

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Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami

published 20 Sep 2011

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Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis

Naohiro Kurotaki, Shinya Tasaki, Hiroyuki Mishima, Shinji Ono, Akira Imamura, Taeko Kikuchi, Nao Nishida, Katsushi Tokunaga, Koh-ichiro Yoshiura, Hiroki Ozawa

published 31 May 2011

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