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Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies.

• Authors : de Castro-Miró, Marta^1,2,3; Pomares, Esther^1,2; Lorés-Motta, Laura¹

Subjects: *RETINAL degeneration; *MOLECULAR diagnosis; *GENETIC disorder diagnosis

• Source: PLoS ONE. Feb2014, Vol. 9 Issue 2, p1-10. 10p.

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Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

• Authors : Campuzano, Oscar¹; Sarquella-Brugada, Georgia²; Mademont-Soler, Irene¹

Subjects: *LONG QT syndrome; *ETIOLOGY of diseases; *NUCLEOTIDE sequencing

• Source: PLoS ONE. Dec2014, Vol. 9 Issue 12, p1-12. 12p.

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The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).

• Authors : Fontanesi, Luca^1,2 ; Vargiolu, Manuela³; Scotti, Emilio¹

Subjects: *EUROPEAN rabbit; *AMERICAN checkered giant rabbits; *ANIMAL models in research

• Source: PLoS ONE. Apr2014, Vol. 9 Issue 4, p1-12. 12p.

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The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).

• Authors : Fontanesi, Luca^1,2 ; Vargiolu, Manuela³; Scotti, Emilio¹

• Source: PLoS ONE. Apr2014, Vol. 9 Issue 4, p1-12. 12p.

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Effector Genomics Accelerates Discovery and Functional Profiling of Potato Disease Resistance and Phytophthora Infestans Avirulence Genes.

• Authors : Vleeshouwers, Vivianne G. A. A.¹ ; Rietman, Hendrik¹; Krenek, Pavel¹

Subjects: *LATE blight of potato; *PHYTOPHTHORA infestans; *PEPTIDES

• Source: PLoS ONE. 2008, Vol. 3 Issue 8, p1-10. 10p. 11 Color Photographs, 3 Charts.

تفاصيل العنوان

The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).

• Authors : Fontanesi, Luca^1,2 ; Vargiolu, Manuela³; Scotti, Emilio¹

Subjects: *EUROPEAN rabbit; *AMERICAN checkered giant rabbits; *ANIMAL models in research

• Source: PLoS ONE. Apr2014, Vol. 9 Issue 4, p1-12. 12p.

تفاصيل العنوان

The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus).

• Authors : Fontanesi, Luca; Vargiolu, Manuela; Scotti, Emilio

Subjects: EUROPEAN rabbit; AMERICAN checkered giant rabbits; ANIMAL models in research

• Source: PLoS ONE; Apr2014, Vol. 9 Issue 4, p1-12, 12p

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A Large Novel Deletion Downstream ofPAX6 Gene in a Chinese Family with Ocular Coloboma.

• Authors : Guo, Hong¹ ; Dai, Limeng¹; Huang, Yanming²

Subjects: *COLOBOMA; *GENETIC transcription; *CHROMOSOMES

• Source: PLoS ONE. Dec2013, Vol. 8 Issue 12, p1-1. 1p.

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Heterozygous junctophilin-2 (JPH2) p. (Thr161Lys) is a monogenic cause for HCM with heart failure

• Authors : Vanninen, Sari U. M.; Leivo, Krista; Seppälä, Eija H. ...

Subjects: BINDING-PROTEIN-C; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY

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The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus).

• Authors : Fontanesi L; Department of Agricultural and Food Sciences, Division of Animal Sciences, Laboratory of Livestock Genomics, University of Bologna, Bologna, Italy; Centre for Genome Biology, University of Bologna, Bologna, Italy.

Subjects: Hair Color/Hair Color/Hair Color/*genetics ; Hirschsprung Disease/Hirschsprung Disease/Hirschsprung Disease/*genetics ; Proto-Oncogene Proteins c-kit/Proto-Oncogene Proteins c-kit/Proto-Oncogene Proteins c-kit/*genetics

• Source: PloS one [PLoS One] 2014 Apr 15; Vol. 9 (4), pp. e93750. Date of Electronic Publication: 2014 Apr 15 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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