المؤلفون: Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

المصدر: PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/9d06bad8b8e446029dee31c9786b024bTest

المؤلفون: Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan

المصدر: PLoS ONE, Vol 12, Iss 3, p e0173682 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5351877?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/c46a06a58a964271ac86afd5128b04ceTest

المؤلفون: Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks

المصدر: PLoS ONE, Vol 9, Iss 7, p e101782 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4086958?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/e830525ea41f45949613332e50f1e6e4Test

المؤلفون: Monika B Dolinska, Elena Kovaleva, Peter Backlund, Paul T Wingfield, Brian P Brooks, Yuri V Sergeev

المصدر: PLoS ONE, Vol 9, Iss 1, p e84494 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3879332?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/4dec2b2bd5b94645963092e9a0ba8acdTest

المؤلفون: Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks

المصدر: JCI Insight, Vol 7, Iss 2 (2022)

مصطلحات موضوعية: Ophthalmology, Medicine

العلاقة: https://doi.org/10.1172/jci.insight.155373Test; https://doaj.org/toc/2379-3708Test; https://doaj.org/article/146b982cd8b64cd48a399486f1b3dc35Test

الإتاحة: https://doi.org/10.1172/jci.insight.155373Test
https://doaj.org/article/146b982cd8b64cd48a399486f1b3dc35Test

المؤلفون: Ananya Samanta, James Gentry, Kamil Kruczek, Zepeng Qu, Benjamin R. Fadl, Brian P. Brooks, Colin J Chu, Zhijian Wu, Zachary Batz, Linn Gieser, Laura Campello, Suja Hiriyanna, Anand Swaroop, Mugdha Samant

المصدر: Stem Cell Reports
Kruczek, K, Qu, Z, Gentry, J, Fadl, B R, Gieser, L, Hiriyanna, S, Batz, Z, Samant, M, Samanta, A, Chu, C J, Campello, L, Brooks, B P, Wu, Z & Swaroop, A 2021, ' Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids ', Stem Cell Reports, vol. 16, no. 2, pp. 252-263 . https://doi.org/10.1016/j.stemcr.2020.12.018Test

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Opsin, genetic structures, Genetic enhancement, Leber Congenital Amaurosis, medicine.disease_cause, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, disease modeling, Child, Induced pluripotent stem cell, transcription factor, Mutation, iPSC, Cell Differentiation, AAV, Dependovirus, Organoids, Phenotype, Child, Preschool, Female, Single-Cell Analysis, pluripotent stem cells, Stem cell, Adult, Induced Pluripotent Stem Cells, 3-D organoids, Biology, Models, Biological, Retina, Article, 03 medical and health sciences, scRNA-seq, Genetics, medicine, Humans, Photoreceptor Cells, Homeodomain Proteins, therapy, Opsins, Sequence Analysis, RNA, Retinal, Genetic Therapy, Cell Biology, medicine.disease, eye diseases, 030104 developmental biology, chemistry, Trans-Activators, retinal degeneration, Cancer research, Homeobox, sense organs, Transcriptome, transcriptome, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a0a53897ea69bd6cee97b109036be2Test
https://doi.org/10.1016/j.stemcr.2020.12.018Test

المؤلفون: Robert B. Hufnagel, Raphaela Goldbach-Mansky, Priyam Jani, Edward W. Cowen, Rachael Wasikowski, Antonette Souto El Husny, Marcus Y. Chen, J. Michelle Kahlenberg, Johann E. Gudjonsson, Sayoko E. Moroi, Adriana Almeida de Jesus, Blake M. Warner, Allison C. Billi, Haitao Wang, Izabela Almeida, Brian P. Brooks, Sarah J. Garnai, Lev Prasov, Edmundo Frota de Almeida, Carlos Ferreira, Shahzad I. Mian, Lam C. Tsoi, Julia E. Richards, Brenda L. Bohnsack, Luciana Negrão Frota de Almeida, Fernando Kok, Bin Guan, Sun Hur

المصدر: J Med Genet

مصطلحات موضوعية: 0301 basic medicine, RIG-I, RNA, Biology, Rash, Phenotype, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Interferon, Immunology, Gene expression, Genotype, 030221 ophthalmology & optometry, Genetics, medicine, medicine.symptom, Genetics (clinical), Exome sequencing, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001c359b15fb983b5ad4e152523fa6f6Test
https://doi.org/10.1136/jmedgenet-2020-107447Test

المؤلفون: Andrea L. Gropman, Brian P. Brooks, Robert B. Hufnagel, Julia Chertkof, Delphine Blain

المصدر: Ophthalmic genetics

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, business.industry, Heart block, External ophthalmoplegia, retinoschisis, Retinoschisis, Pigmentary Retinopathy, 030105 genetics & heredity, medicine.disease, eye diseases, Article, Kearns–Sayre syndrome, mitochondria, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Kearns-Sayre syndrome, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, medicine, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a885fcde247ef8336ccd5e80ad30c26bTest
http://europepmc.org/articles/PMC8127726Test

المؤلفون: Robert B. Hufnagel, Brian P. Brooks, James W. Thomas, Delphine Blain, Yuri V. Sergeev, Tiziana Cogliati, Ramakrishna P. Alur, LeeAnn K. Li, Vijay Kumar Kalaskar

المصدر: Human Mutation

مصطلحات موضوعية: Male, Models, Molecular, Receptors, Retinoic Acid, DNA Mutational Analysis, Gene Expression, Retinoic acid receptor beta, Missense mutation, Child, Zebrafish, Research Articles, Genetics (clinical), 0303 health sciences, Coloboma, biology, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Phenotype, Pedigree, 3. Good health, DNA-Binding Proteins, Female, Research Article, Adult, retinoic acid receptor beta, TFAP2A, Structure-Activity Relationship, 03 medical and health sciences, custom capture, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Protein Interaction Domains and Motifs, Gene, Genetic Association Studies, 030304 developmental biology, high‐throughput sequencing, Infant, DNA-binding domain, biology.organism_classification, medicine.disease, Molecular biology, eye diseases, HEK293 Cells, Mutation, sense organs

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79f3ba7d32292165c9b19b2c35441c0Test
https://doi.org/10.1002/humu.23954Test

المؤلفون: Christine N. Kay, Alicia Chacon, Thomas B. Connor, William W. Hauswirth, Erica N. Woertz, Michel Michaelides, Mark E. Pennesi, Kimberly E Stepien, Joseph Carroll, Byron L. Lam, Niamh Wynne, Sasha Strul, C. Gail Summers, Arlene V. Drack, Brian P. Brooks, Deborah M. Costakos, Katie M. Litts, Alina V. Dumitrescu, Gerald A. Fishman

المصدر: Translational Vision Science & Technology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Achromatopsia, Visual acuity, genetic structures, Visual Acuity, Biomedical Engineering, Color Vision Defects, albinism, Article, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Foveal, Ophthalmology, medicine, Humans, In patient, Aged, adaptive optics scanning light ophthalmoscopy, Entire population, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, foveal cones, Benchmarking, 030104 developmental biology, 030221 ophthalmology & optometry, Albinism, sense organs, medicine.symptom, achromatopsia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05e509e67856dcc389146a677f05773Test
http://europepmc.org/articles/PMC8132001Test