نتائج البحث

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.

• Authors : Komáromy, András M.^1,2 ; Knollinger, Amy M.³; Kukekova, Anna V.^4,5

• Source: BMC Genetics. 2013, Vol. 14 Issue 1, p1-12. 12p. 1 Color Photograph, 2 Diagrams, 2 Graphs.

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Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

• Authors : Fen-Fen Li¹; Xiu-Feng Huang¹; Jie Chen¹

• Source: Journal of Translational Medicine. 10/22/2015, Vol. 13, p1-8. 8p.

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Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

• Authors : Li FF; The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, 325027, China. .; Huang XF

Subjects: Exome* ; Mutation*; Color Vision Defects/Color Vision Defects/Color Vision Defects/*genetics

• Source: Journal of translational medicine [J Transl Med] 2015 Oct 22; Vol. 13, pp. 334. Date of Electronic Publication: 2015 Oct 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium:

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Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.

• Authors : Yeh CY; Goldstein O; Kukekova AV

Subjects: Color Vision Defects/Color Vision Defects/Color Vision Defects/*genetics ; Cyclic Nucleotide-Gated Cation Channels/Cyclic Nucleotide-Gated Cation Channels/Cyclic Nucleotide-Gated Cation Channels/*genetics ; Dog Diseases/Dog Diseases/Dog Diseases/*genetics

• Source: BMC genetics [BMC Genet] 2013 Apr 20; Vol. 14, pp. 27. Date of Electronic Publication: 2013 Apr 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100966978 Publication Model: Electronic Cited Medium:

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Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

• Authors : Liang, Yuqin^1,2 (AUTHOR); Sun, Xihao^1,2 (AUTHOR); Duan, Chunwen^1,3 (AUTHOR)

• Source: Stem Cell Research & Therapy. 11/27/2023, Vol. 14 Issue 1, p1-17. 17p.

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Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

• Authors : Suppiej, Agnese^1,2 (AUTHOR) ; Marino, Silvia³ (AUTHOR); Reffo, Maria Eleonora² (AUTHOR)

• Source: Italian Journal of Pediatrics. 12/21/2019, Vol. 45 Issue 1, p1-5. 5p.

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