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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

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

Sundaramurthy Srilekha, Tharigopala Arokiasamy, [ ... ], Nagasamy Soumittra

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

Maleeha Maria, Muhammad Ajmal, [ ... ], Frans P. M. Cremers

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

Takashi Hirano, Naohiko Kobayashi, [ ... ], Yoshikazu Sugimoto

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, [ ... ], Dror Sharon

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

Javier Simón-Sánchez, Laura L. Kilarski, [ ... ], Huw R. Morris

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

Koichi Hagiwara, Hiroyuki Morino, [ ... ], Hideshi Kawakami

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

Naohiro Kurotaki, Shinya Tasaki, [ ... ], Hiroki Ozawa

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