-
1دورية أكاديمية
المؤلفون: Varela, Malena Daich, Bellingham, James, Motta, Fabiana, Jurkute, Neringa, Ellingford, Jamie M, Quinodoz, Mathieu, Oprych, Kathryn, Niblock, Michael, Janeschitz-Kriegl, Lucas, Kaminska, Karolina, Cancellieri, Francesca, Scholl, Hendrik PN, Lenassi, Eva, Schiff, Elena, Knight, Hannah, Black, Graeme, Rivolta, Carlo, Cheetham, Michael E, Michaelides, Michel, Mahroo, Omar A, Moore, Anthony T, Webster, Andrew R, Arno, Gavin
المصدر: Human Molecular Genetics. 32(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Humans, Mutation, Pedigree, Retinal Dystrophies, Whole Genome Sequencing, Patient Care Team, DNA Mutational Analysis, Eye Proteins, Membrane Proteins, Nerve Tissue Proteins, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4z14k3r2Test
-
2
-
3تقرير
-
4رسالة جامعية
-
5دورية أكاديمية
المؤلفون: Lin, Siying, Vermeirsch, Sandra, Pontikos, Nikolas, Martin-Gutierrez, M Pilar, Varela, Malena Daich, Malka, Samantha, Schiff, Elena, Knight, Hannah, Wright, Genevieve, Jurkute, Neringa, Simcoe, Mark J, Yu-Wai-Man, Patrick, Moosajee, Mariya, Michaelides, Michel, Mahroo, Omar A, Webster, Andrew R, Arno, Gavin
المصدر: Ophthalmology Retina (2024) (In press).
مصطلحات موضوعية: Inherited retinal disease, genotypes, pathogenic alleles, variant classification, variants
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185985/1/1-s2.0-S2468653024000137-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185985Test/
-
6دورية أكاديمية
المؤلفون: Lin, Siying, Vermeirsch, Sandra, Pontikos, Nikolas, Martin-Gutierrez, Maria Pilar, Daich Varela, Malena, Malka, Samantha, Schiff, Elena, Knight, Hannah, Wright, Genevieve, Jurkute, Neringa, Simcoe, Mark J., Yu-Wai-Man, Patrick, Moosajee, Mariya, Michaelides, Michel, Mahroo, Omar A., Webster, Andrew R., Arno, Gavin
المصدر: Ophthalmology Retina ; ISSN 2468-6530
مصطلحات موضوعية: Ophthalmology
الإتاحة: https://doi.org/10.1016/j.oret.2024.01.012Test
https://api.elsevier.com/content/article/PII:S2468653024000137?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468653024000137?httpAccept=text/plainTest -
7تقرير
المؤلفون: Knight, Hannah
المصدر: Reference for original article: N. G. Chebotarev, Izv. Akad. Nauk SSSR, Ser. Mat. 7, 123-146, 1943
مصطلحات موضوعية: Mathematics - History and Overview
الوصول الحر: http://arxiv.org/abs/2010.10586Test
-
8تقرير
المؤلفون: Knight, Hannah
مصطلحات موضوعية: Mathematics - History and Overview
الوصول الحر: http://arxiv.org/abs/2010.04718Test
-
9دورية أكاديمية
المؤلفون: Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T, Michaelides, Michel, Webster, Andrew R, Mahroo, Omar A
المصدر: Ophthalmology. 127(10)
مصطلحات موضوعية: Genetics, Eye Disease and Disorders of Vision, Clinical Research, DNA, DNA Mutational Analysis, Eye Proteins, Female, Genetic Testing, Humans, Male, Mutation, Pedigree, Retina, Retinal Diseases, Retrospective Studies, United Kingdom, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0237t9z5Test
-
10دورية أكاديمية
المؤلفون: Ren, Jie, Han, Peidong, Ma, Xuanyi, Farah, Elie N, Bloomekatz, Joshua, Zeng, Xin-Xin I, Zhang, Ruilin, Swim, Megan M, Witty, Alec D, Knight, Hannah G, Deshpande, Rima, Xu, Weizhe, Yelon, Deborah, Chen, Shaochen, Chi, Neil C
المصدر: Developmental Cell. 50(6)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Cardiovascular, Stem Cell Research, Heart Disease, Stem Cell Research - Embryonic - Human, Underpinning research, 1.1 Normal biological development and functioning, Animals, Base Sequence, Bioprinting, Cell Differentiation, Gene Expression Regulation, Developmental, Homeobox Protein Nkx-2.5, Humans, Loss of Function Mutation, Mesoderm, Models, Cardiovascular, Myocytes, Cardiac, Pluripotent Stem Cells, Signal Transduction, Stem Cells, Wnt Proteins, Zebrafish, 3D bioprinting, Wnt5b, canonical Wnt signaling, differentiation, human pluripotent stem cells, pacemaker cardiomyocytes, zebrafish, Medical and Health Sciences, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8s71z7d8Test