المؤلفون: Kellie Ann Schaefer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c4050b69fe3e48d3ea6b03ced9aa41cd
https://doi.org/10.17077/etd.005662

المؤلفون: Norman A. Saffra, Stephen H. Tsang, Alexander G. Bassuk, Yu Xu, Katherine Boudreault, Gabriel Velez, Kellie A. Schaefer, Vinit B. Mahajan, Marcus A. Toral

المصدر: Molecular Genetics & Genomic Medicine. 5:202-209

مصطلحات موضوعية: 0301 basic medicine, Genetics, Achromatopsia, genetic structures, Point mutation, Retinal, Biology, medicine.disease, Microphthalmia, eye diseases, Hypoplasia, 3. Good health, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, chemistry, Aniridia, Foveal, Mutation (genetic algorithm), medicine, sense organs, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da5fa9c9794888d00dfcd74b2f211133
https://doi.org/10.1002/mgg3.266

المؤلفون: Gabriel, Velez, Alexander G, Bassuk, Kellie A, Schaefer, Brian, Brooks, Lokesh, Gakhar, MaryAnn, Mahajan, Philip, Kahn, Stephen H, Tsang, Polly J, Ferguson, Vinit B, Mahajan

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Male, Models, Molecular, Genotype, Calpain, Protein Conformation, mid-frequency hearing loss, Developmental Disabilities, degenerative vitreoretinopathy, Vitreoretinopathy, Proliferative, Electroencephalography, Research Reports, neovascularization of peripheral and posterior retina, Pedigree, Phenotype, Child, Preschool, Mutation, Exome Sequencing, uveitis, Humans, Amino Acid Sequence, Hearing Loss, retrobulbar optic neuritis, Alleles, Genetic Association Studies, delayed social development

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ddd8ba34a58adf68d7a6edeea08fb883
https://pubmed.ncbi.nlm.nih.gov/29472286

المؤلفون: Alexander G. Bassuk, Jesse D. Sengillo, Yazeed L. Abdulla, Galaxy Y. Cho, Stephen H. Tsang, Vinit B. Mahajan, Kellie A. Schaefer, Sally Justus

المصدر: Current ophthalmology reports. 5(3)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Treatment options, Disease, Bioinformatics, Leber congenital amaurosis, Genome, Article, Unmet needs, Surgery, Genome engineering, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, Genome editing, Medicine, CRISPR, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b1c6bf00a08595b0cbf527d2f1ab272
https://pubmed.ncbi.nlm.nih.gov/28966884

المؤلفون: Alexander G. Bassuk, Stephen H. Tsang, Kellie A. Schaefer, MaryAnn Mahajan, Anuradha Gore, Vinit B. Mahajan

المصدر: BMC Research Notes
BMC Research Notes, Vol 10, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Central nervous system, lcsh:Medicine, Gene Expression, In situ hybridization, Biology, Eye, CAPN5, General Biochemistry, Genetics and Molecular Biology, Retina, 03 medical and health sciences, Ciliary body, Gene expression, medicine, Animals, RNA, Messenger, lcsh:Science (General), lcsh:QH301-705.5, Oligonucleotide, Calpain, lcsh:R, RNA, Brain, General Medicine, RNA Probes, Molecular biology, 3. Good health, Mice, Inbred C57BL, Research Note, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), biology.protein, sense organs, lcsh:Q1-390

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e68b03ad592fef36420c881c22c14c
https://pubmed.ncbi.nlm.nih.gov/29157313

المؤلفون: Stephen H. Tsang, Vinit B. Mahajan, Kellie A. Schaefer, Benjamin W. Darbro, Diana F. Colgan, Alexander G. Bassuk

مصطلحات موضوعية: Whole genome sequencing, Zygote, Strain (biology), Genetic variation, CRISPR, Computational biology, Biology, Genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5eeb34d2a6569679c3ac1088f7c368a

المؤلفون: Marcus A, Toral, Gabriel, Velez, Katherine, Boudreault, Kellie A, Schaefer, Yu, Xu, Norman, Saffra, Alexander G, Bassuk, Stephen H, Tsang, Vinit B, Mahajan

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: SLC38A8, genetic structures, precision medicine, structural modeling, foveal hypoplasia, Original Article, OCT‐angiography, sense organs, Original Articles, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::66ffda1d07551e23a518cf17089017a5
https://pubmed.ncbi.nlm.nih.gov/28546991

المؤلفون: Chen Guang Yu, Marcus A. Toral, Diana F. Colgan, Vimala Bondada, Vinit B. Mahajan, Alexander G. Bassuk, Gabriel Velez, Kellie A. Schaefer, James W. Geddes, Charles B. Mashburn, Stephen H. Tsang, Nicholas Borcherding, Sheila A. Baker, Allison Cox

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: 0301 basic medicine, Male, Retinal Neoplasms, Blotting, Western, Outer plexiform layer, Biology, CAPN5, Retina, Synapse, 03 medical and health sciences, chemistry.chemical_compound, Mice, medicine, Tumor Cells, Cultured, Animals, Humans, Photoreceptor Cells, RNA, Neoplasm, Gene, Retinoblastoma, Calpain, Retinal, Anatomy, Neoplasms, Experimental, autosomal dominant neovascular inflammatory vitreoretinopathy, medicine.disease, Phenotype, Immunohistochemistry, ADNIV, 3. Good health, Cell biology, Gene Expression Regulation, Neoplastic, 030104 developmental biology, medicine.anatomical_structure, chemistry, Retinal Cell Biology, Synapses, biology.protein, Cattle, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d79b4957bcb31b01f6062259531b44
https://pubmed.ncbi.nlm.nih.gov/27152965

المؤلفون: Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan, Diana F. Colgan, Wen-Hsuan Wu, Kellie A. Schaefer

المصدر: Nature Methods. 14:547-548

مصطلحات موضوعية: 0301 basic medicine, Extramural, Cell Biology, Computational biology, Biology, Bioinformatics, Biochemistry, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Nat, In vivo, CRISPR, Molecular Biology, 030217 neurology & neurosurgery, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6863dbac8c67c0a610ca807df689229d
https://doi.org/10.1038/nmeth.4293

المؤلفون: Stephen H. Tsang, Vinit B. Mahajan, Diana F. Colgan, Kellie A. Schaefer, Wen-Hsuan Wu, Alexander G. Bassuk

المصدر: Nature Methods. 15:394-394

مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, Nat, In vivo, CRISPR, Cell Biology, Biology, Molecular Biology, Biochemistry, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8edaa36e5d08d513e89a7869c03b5cb8
https://doi.org/10.1038/nmeth0518-394a

المؤلفون: Gabriel Velez, Stephen H. Tsang, MaryAnn Mahajan, Polly J. Ferguson, Kellie A. Schaefer, Lokesh Gakhar, Brian P. Brooks, Alexander G. Bassuk, Philip Kahn, Vinit B. Mahajan

المصدر: Molecular Case Studies. 4:a002519

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Mutation, biology, business.industry, Hearing loss, Calpain, General Medicine, 030105 genetics & heredity, medicine.disease, medicine.disease_cause, 3. Good health, Neovascularization, 03 medical and health sciences, 030104 developmental biology, Immunology, biology.protein, Medicine, Missense mutation, Synaptic signaling, medicine.symptom, business, Uveitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::715dcb2f08e42d3ce9b6ae523e9b26cb
https://doi.org/10.1101/mcs.a002519

المؤلفون: Albert R. La Spada, Beverly L. Davidson, Pavitra S. Ramachandran, Ryan L. Boudreau, Kellie A. Schaefer

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy. 22(9)

مصطلحات موضوعية: Cerebellum, Ataxin 7, Ataxia, Mutant, Nerve Tissue Proteins, Motor Activity, 03 medical and health sciences, Mice, Purkinje Cells, 0302 clinical medicine, Drug Discovery, Genetics, medicine, Gene silencing, Animals, Spinocerebellar Ataxias, Acetyltransferase complex, Molecular Biology, Alleles, 030304 developmental biology, Pharmacology, Ataxin-7, 0303 health sciences, biology, Wild type, medicine.disease, Molecular biology, 3. Good health, Mice, Inbred C57BL, Disease Models, Animal, medicine.anatomical_structure, Gene Expression Regulation, Mutation, Spinocerebellar ataxia, biology.protein, Molecular Medicine, RNA Interference, Original Article, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ea69e32e80a7f9fb0eeb8dc17bccbcc
https://pubmed.ncbi.nlm.nih.gov/24930601