scholarly journals Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

2017 ◽  
Vol 58 (4) ◽  
pp. 2207 ◽  
Author(s):  
Jianjun Chen ◽  
Qiwei Wang ◽  
Patricia E. Cabrera ◽  
Zilin Zhong ◽  
Wenmin Sun ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Congenital Cataracts ◽  
Pakistani Families

Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus

2005 ◽  
Vol 30 (12) ◽  
pp. 1081-1087 ◽  
Author(s):  
Mai M. Abd El-Aziz ◽  
Mohamed F. El-Ashry ◽  
Isabel Barragan ◽  
Irene Marcos ◽  
Salud Borrego ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

The Lancet ◽  
2002 ◽  
Vol 359 (9309) ◽  
pp. 841-847 ◽  
Author(s):  
Marcello Arca ◽  
Giovanni Zuliani ◽  
Kenneth Wilund ◽  
Filomena Campagna ◽  
Renato Fellin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene
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