homozygosity mapping

نتایج جستجو برای: homozygosity mapping

تعداد نتایج: 200921 فیلتر نتایج به سال:

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Journal: :PLoS ONE 2014

متن کامل

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.

Journal: :Journal of Medical Genetics 1998

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APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Journal: :BMC Medical Genetics 2012

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Homozygosity Mapping of a Gene Responsible for Gelatinous Drop–like Corneal Dystrophy to Chromosome 1p

Journal: :The American Journal of Human Genetics 1998

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Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Journal: :The American Journal of Human Genetics 2010

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Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

Journal: :The American Journal of Human Genetics 1999

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Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing

Journal: :Development 2012

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Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation inPOMGNT1to Autosomal Recessive Retinitis Pigmentosa

Journal: :Investigative Opthalmology & Visual Science 2016

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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Journal: :Investigative Opthalmology & Visual Science 2017

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Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping

Journal: :The American Journal of Human Genetics 2000

متن کامل

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