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Results for “"Zuhair N. Al‐Hassnan"”

2 results

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

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Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya et al.

Journal: Genome ResearchYear: 2012Citations: 282

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy

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Zuhair N. Al‐Hassnan, Abdulrahman Almesned, Sahar Tulbah, Ali A. Alakhfash et al.

Journal: Circulation Genomic and Precision MedicineYear: 2020Citations: 43

Background: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. Methods: To unravel the genetic cause of childhood-onset cardiomyopathy i...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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