نتائج البحث

Gene Therapy for Achromatopsia

• Authors : Megan F. Baxter; Grace A. Borchert

Subjects: achromatopsia; gene therapy; cone dysfunction

• Source: International Journal of Molecular Sciences, Vol 25, Iss 17, p 9739 (2024)

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Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

• Authors : Zahra Nouri; Akram Sarmadi; Sina Narrei

Subjects: Hearing loss; Cone dystrophy; Achromatopsia

• Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

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A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

• Authors : Akiko Suga; Kei Mizobuchi; Taiga Inooka

Subjects: Achromatopsia; Genome sequencing; RPGRIP1

• Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)

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Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia

• Authors : Chan, Caroline; Seitz, Berthold; Käsmann-Kellner, Barbara

Subjects: ddc:610; achromatopsia; cone

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Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia

• Authors : Caroline Chan; Berthold Seitz; Barbara Käsmann-Kellner

Subjects: achromatopsia; cone; low vision aids

• Source: Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1106

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Genetic and Clinical Characterization of Danish Achromatopsia Patients

• Authors : Mette Kjøbæk Gundestrup Andersen; Mette Bertelsen; Karen Grønskov

Subjects: Achromatopsia; CNGA3; CNGB3agris

• Source: Genes; Volume 14; Issue 3; Pages: 690

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Clinical and Genetic Features of Korean Patients with Achromatopsia

• Authors : Yong Je Choi; Kwangsic Joo; Hyun Taek Lim

Subjects: achromatopsia; CNGA3; CNGB3agris

• Source: Genes; Volume 14; Issue 2; Pages: 519

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High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs

• Authors : Laura Siles; Paula Gaudó; Esther Pomares

Subjects: CRISPR/Cas9; gene editing; achromatopsiaagris

• Source: International Journal of Molecular Sciences; Volume 24; Issue 4; Pages: 3655

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High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs

• Authors : Laura Siles; Paula Gaudó; Esther Pomares

Subjects: CRISPR/Cas9; gene editing; achromatopsia

• Source: International Journal of Molecular Sciences, Vol 24, Iss 4, p 3655 (2023)

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Clinical and Genetic Features of Korean Patients with Achromatopsia

• Authors : Yong Je Choi; Kwangsic Joo; Hyun Taek Lim

Subjects: achromatopsia; CNGA3; CNGB3

• Source: Genes, Vol 14, Iss 2, p 519 (2023)

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