Showing 1 - 20 results of 48 for search 'GENETICS LAB', query time: 0.64s Refine Results
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    ... utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a...
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    ... utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder...
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    ... confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials....
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    ... utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its...
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    ... utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner...
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    ... utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner...
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    ... utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive...
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    ... utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown...
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    ... utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F...
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    ... utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited...
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    ... utility of the genetic test for Mendelian cataract (MC). MC is caused by variations in the AGK, BFSP1...
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    ...Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity...
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    ... and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported...
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    ... disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal...
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