المؤلفون: Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

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

مصطلحات موضوعية: Hearing loss, Cone dystrophy, Achromatopsia, Whole exome sequencing, PDZD7, PDE6C, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/0953796e171344b2b31b2ac8dbdb4ba3Test

المؤلفون: Chloe Brotherton, Roly Megaw

المصدر: Genes, Vol 15, Iss 6, p 727 (2024)

مصطلحات موضوعية: achromatopsia, CORDs, CODs, photoreceptors, Xq28-associated disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/727Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/3d88f5813b784b5cadb115aba67f6db1Test

المؤلفون: Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Reiko Miyahara, Hideyuki Shimanuki

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

مصطلحات موضوعية: Achromatopsia, Genome sequencing, RPGRIP1, Structural variant, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424009890Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/a0a40200ace245f49c062e5cf42c6c3bTest

المؤلفون: Zihao Yang, Lin Yan, Wenliang Zhang, Jia Qi, Wenjing An, Kai Yao

المصدر: Frontiers in Neuroscience, Vol 18 (2024)

مصطلحات موضوعية: color blindness, achromatopsia, cone, mechanism, treatment, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2024.1265630/fullTest; https://doaj.org/toc/1662-453XTest

الوصول الحر: https://doaj.org/article/148c39ce88d34c0f8d68e6b4549eb239Test

المؤلفون: Castagnedi Ramirez, Alessandra Esther

المصدر: IUS ET SCIENTIA; Vol. 10 No. 1 (2024): The digital market and the regulation of frontier technologies; 145-168 ; IUS ET SCIENTIA; Vol. 10 Núm. 1 (2024): El mercado digital y la regulación de las tecnologías de frontera; 145-168 ; 2444-8478 ; 10.12795/IESTSCIENTIA.2024.i01

مصطلحات موضوعية: Transhumanism, Disability, Neil Harbisson, Achromatopsia, Eyeborg, Human enhancement technology, Technological ethics, Social responsibility, Technological innovation, Quality of life improvement, Ethical and social implications, Transhumanismo, Discapacidad, Tecnología de mejora humana, Ética tecnológica, Responsabilidad social, Innovación tecnológica, Mejora de la calidad de vida, Implicaciones éticas y sociales

وصف الملف: application/pdf; text/html

العلاقة: https://revistascientificas.us.es/index.php/ies/article/view/25683/22852Test; https://revistascientificas.us.es/index.php/ies/article/view/25683/22853Test; https://revistascientificas.us.es/index.php/ies/article/view/25683Test

الإتاحة: https://doi.org/10.12795/IESTSCIENTIA.2024.i01.0710.12795/IESTSCIENTIA.2024.i01Test
https://revistascientificas.us.es/index.php/ies/article/view/25683Test

المؤلفون: Jabbar, Maryam, Aslam, Amna, Faryad, Maryam, Mehboob, Ayesha, Zahid, Naveera, Amjad, Marriam

المصدر: Pakistan Journal of Health Sciences; 2024: Volume 05 Issue 05 (May Issue); 147-152 ; 2790-9352 ; 2790-9344 ; 10.54393/pjhs.v5i05

مصطلحات موضوعية: Achromatopsia, Red-Green Color Defect, Color Blindness, X-Chrome Contact Lens

وصف الملف: application/pdf

العلاقة: https://thejas.com.pk/index.php/pjhs/article/view/1598/889Test; https://thejas.com.pk/index.php/pjhs/article/view/1598Test

الإتاحة: https://doi.org/10.54393/pjhs.v5i05.159810.54393/pjhs.v5i05Test
https://thejas.com.pk/index.php/pjhs/article/view/1598Test

المؤلفون: Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

المصدر: Human Mutation. 43(7):832-858

مصطلحات موضوعية: achromatopsia, CNGA3, cyclic nucleotide-gated ion channel, in silico analysis, variant classification, variant spectrum, medicinsk genetik, Medical Genetics

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641Test
https://doi.org/10.1002/humu.24371Test
https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdfTest

المؤلفون: Kumari Pritti, Vineet Mishra, Udhaya Kotecha, Somesh Aggarwal

المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Exome sequencing, Achromatopsia, Genetic testing, Compound heterozygous, Prenatal diagnosis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/ff301249708745c89447aaecca85ad0dTest

المؤلفون: Purohit, Ravi

مصطلحات موضوعية: optic nerve head, foveation strategies, infants, children, infantile nystagmus, thesis, albinism, achromatopsia

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.850090Test

المؤلفون: Uysal, Suzan, author

المصدر: Functional Neuroanatomy and Clinical Neuroscience : Foundations for Understanding Disorders of Cognition and Behavior, 2023, ill.

الإتاحة: https://doi.org/10.1093/oso/9780190943608.003.0014Test