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1دورية أكاديمية
المؤلفون: Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen CJ, Hadlock, Tessa A, Vissers, Lisenka ELM, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, Engle, Elizabeth C
المصدر: Nature Genetics. 55(7)
مصطلحات موضوعية: Biological Sciences, Genetics, Stem Cell Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Animals, Mice, Facial Paralysis, GATA2 Transcription Factor, Motor Neurons, Neurogenesis, Neurons, Efferent, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0w01w8fmTest
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2دورية أكاديمية
المؤلفون: Consortium, The Genetics of Glaucoma in People of African Descent, Hauser, Michael A, Allingham, R Rand, Aung, Tin, Van Der Heide, Carly J, Taylor, Kent D, Rotter, Jerome I, Wang, Shih-Hsiu J, Bonnemaijer, Pieter WM, Williams, Susan E, Abdullahi, Sadiq M, Abu-Amero, Khaled K, Anderson, Michael G, Akafo, Stephen, Alhassan, Mahmoud B, Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W, Bromley, William C, Budenz, Donald L, Carmichael, Trevor R, Challa, Pratap, Chen, Yii-Der Ida, Chuka-Okosa, Chimdi M, Bailey, Jessica N Cooke, Costa, Vital Paulino, Cruz, Dianne A, DuBiner, Harvey, Ervin, John F, Feldman, Robert M, Flamme-Wiese, Miles, Gaasterland, Douglas E, Garnai, Sarah J, Girkin, Christopher A, Guirou, Nouhoum, Guo, Xiuqing, Haines, Jonathan L, Hammond, Christopher J, Herndon, Leon, Hoffmann, Thomas J, Hulette, Christine M, Hydara, Abba, Igo, Robert P, Jorgenson, Eric, Kabwe, Joyce, Kilangalanga, Ngoy Janvier, Kizor-Akaraiwe, Nkiru, Kuchtey, Rachel W, Lamari, Hasnaa, Li, Zheng, Liebmann, Jeffrey M, Liu, Yutao, Loos, Ruth JF, Melo, Monica B, Moroi, Sayoko E, Msosa, Joseph M, Mullins, Robert F, Nadkarni, Girish, Napo, Abdoulaye, Ng, Maggie CY, Nunes, Hugo Freire, Obeng-Nyarkoh, Ebenezer, Okeke, Anthony, Okeke, Suhanya, Olaniyi, Olusegun, Olawoye, Olusola, Oliveira, Mariana Borges, Pasquale, Louise R, Perez-Grossmann, Rodolfo A, Pericak-Vance, Margaret A, Qin, Xue, Ramsay, Michele, Resnikoff, Serge, Richards, Julia E, Schimiti, Rui Barroso, Sim, Kar Seng, Sponsel, William E, Svidnicki, Paulo Vinicius, Thiadens, Alberta AHJ, Uche, Nkechinyere J, van Duijn, Cornelia M, de Vasconcellos, José Paulo Cabral, Wiggs, Janey L, Zangwill, Linda M, Risch, Neil, Milea, Dan, Ashaye, Adeyinka, Klaver, Caroline CW, Weinreb, Robert N, Koch, Allison E Ashley, Fingert, John H, Khor, Chiea Chuen
المصدر: JAMA. 322(17)
مصطلحات موضوعية: Neurosciences, Human Genome, Aging, Genetics, Eye Disease and Disorders of Vision, Clinical Research, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Aged, Amyloid beta-Peptides, Black People, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glaucoma, Open-Angle, Humans, Immunohistochemistry, Male, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Medical and Health Sciences, General & Internal Medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4102f35xTest
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3دورية أكاديمية
المؤلفون: Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser, Michael A, Allingham, R Rand, Aung, Tin, Van Der Heide, Carly J, Taylor, Kent D, Rotter, Jerome I, Wang, Shih-Hsiu J, Bonnemaijer, Pieter WM, Williams, Susan E, Abdullahi, Sadiq M, Abu-Amero, Khaled K, Anderson, Michael G, Akafo, Stephen, Alhassan, Mahmoud B, Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W, Bromley, William C, Budenz, Donald L, Carmichael, Trevor R, Challa, Pratap, Chen, Yii-Der Ida, Chuka-Okosa, Chimdi M, Cooke Bailey, Jessica N, Costa, Vital Paulino, Cruz, Dianne A, DuBiner, Harvey, Ervin, John F, Feldman, Robert M, Flamme-Wiese, Miles, Gaasterland, Douglas E, Garnai, Sarah J, Girkin, Christopher A, Guirou, Nouhoum, Guo, Xiuqing, Haines, Jonathan L, Hammond, Christopher J, Herndon, Leon, Hoffmann, Thomas J, Hulette, Christine M, Hydara, Abba, Igo, Robert P, Jorgenson, Eric, Kabwe, Joyce, Kilangalanga, Ngoy Janvier, Kizor-Akaraiwe, Nkiru, Kuchtey, Rachel W, Lamari, Hasnaa, Li, Zheng, Liebmann, Jeffrey M, Liu, Yutao, Loos, Ruth JF, Melo, Monica B, Moroi, Sayoko E, Msosa, Joseph M, Mullins, Robert F, Nadkarni, Girish, Napo, Abdoulaye, Ng, Maggie CY, Nunes, Hugo Freire, Obeng-Nyarkoh, Ebenezer, Okeke, Anthony, Okeke, Suhanya, Olaniyi, Olusegun, Olawoye, Olusola, Oliveira, Mariana Borges, Pasquale, Louise R, Perez-Grossmann, Rodolfo A, Pericak-Vance, Margaret A, Qin, Xue, Ramsay, Michele, Resnikoff, Serge, Richards, Julia E, Schimiti, Rui Barroso, Sim, Kar Seng, Sponsel, William E, Svidnicki, Paulo Vinicius, Thiadens, Alberta AHJ, Uche, Nkechinyere J, van Duijn, Cornelia M, de Vasconcellos, José Paulo Cabral, Wiggs, Janey L, Zangwill, Linda M, Risch, Neil, Milea, Dan, Ashaye, Adeyinka, Klaver, Caroline CW, Weinreb, Robert N, Ashley Koch, Allison E, Fingert, John H, Khor, Chiea Chuen
المصدر: JAMA. 322(17)
مصطلحات موضوعية: Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Immunohistochemistry, Risk Factors, Case-Control Studies, Genotype, Polymorphism, Single Nucleotide, Aged, Middle Aged, African Continental Ancestry Group, Female, Male, Meta-Analysis as Topic, Genome-Wide Association Study, Amyloid beta-Peptides, Eye Disease and Disorders of Vision, Clinical Research, Human Genome, Aging, Neurodegenerative, Genetics, Neurosciences, 2.1 Biological and endogenous factors, General & Internal Medicine, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4102f35xTest
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4دورية أكاديميةNovel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
المؤلفون: Prasov, Lev, Guan, Bin, Ullah, Ehsan, Archer, Steven M., Ayres, Bernadete M., Besirli, Cagri G., Wiinikka-Buesser, Laurel, Comer, Grant M., Del Monte, Monte A., Elner, Susan G., Garnai, Sarah J., Huryn, Laryssa A., Johnson, Kayla, Kamat, Shivani S., Lieu, Philip, Mian, Shahzad I., Rygiel, Christine A., Serpen, Jasmine Y., Pawar, Hemant S., Brooks, Brian P., Moroi, Sayoko E., Richards, Julia E., Hufnagel, Robert B.
المساهمون: National Eye Institute, Knights Templar Eye Foundation
المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-020-76725-8Test
https://www.nature.com/articles/s41598-020-76725-8.pdfTest
https://www.nature.com/articles/s41598-020-76725-8Test -
5دورية أكاديمية
المؤلفون: Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
المساهمون: Anderson, Michael G., Knights Templar Eye Foundation, Research to Prevent Blindness, National Eye Institute, National Center for Advancing Translational Sciences, Race to Erase MS, RP Fighting Blindness, Fight for Sight UK, National Institutes of Health
المصدر: PLOS Genetics ; volume 15, issue 5, page e1008130 ; ISSN 1553-7404
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6دورية أكاديمية
المؤلفون: Hauser, Michael A., Allingham, R. Rand, Aung, Tin, Van Der Heide, Carly J., Taylor, Kent D., Rotter, Jerome I., Wang, Shih-Hsiu J., Bonnemaijer, Pieter W. M., Williams, Susan E., Abdullahi, Sadiq M., Abu-Amero, Khaled K., Anderson, Michael G., Akafo, Stephen, Alhassan, Mahmoud B., Asimadu, Ifeoma, Ayyagari, Radha, Bakayoko, Saydou, Nyamsi, Prisca Biangoup, Bowden, Donald W., Bromley, William C., Budenz, Donald L., Carmichael, Trevor R., Challa, Pratap, Chen, Yii-Der Ida, Chuka-Okosa, Chimdi M., Cooke Bailey, Jessica N., Costa, Vital Paulino, Cruz, Dianne A., DuBiner, Harvey, Ervin, John F., Feldman, Robert M., Flamme-Wiese, Miles, Gaasterland, Douglas E., Garnai, Sarah J., Girkin, Christopher A., Guirou, Nouhoum, Guo, Xiuqing, Haines, Jonathan L., Hammond, Christopher J., Herndon, Leon, Hoffmann, Thomas J., Hulette, Christine M., Hydara, Abba, Igo, Robert P., Jorgenson, Eric, Kabwe, Joyce, Kilangalanga, Ngoy Janvier, Kizor-Akaraiwe, Nkiru, Kuchtey, Rachel W., Lamari, Hasnaa
المصدر: JAMA ; volume 322, issue 17, page 1682 ; ISSN 0098-7484
الإتاحة: https://doi.org/10.1001/jama.2019.16161Test
https://jamanetwork.com/journals/jama/articlepdf/2753899/jama_hauser_2019_oi_190116.pdfTest -
7دورية أكاديمية
المؤلفون: Prasov, Lev, Bohnsack, Brenda L, El Husny, Antonette S, Tsoi, Lam C, Guan, Bin, Kahlenberg, J Michelle, Almeida, Edmundo, Wang, Haitao, Cowen, Edward W, De Jesus, Adriana A, Jani, Priyam, Billi, Allison C, Moroi, Sayoko E, Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N, Kok, Fernando, Garnai, Sarah J, Mian, Shahzad I, Chen, Marcus Y, Warner, Blake M, Ferreira, Carlos R, Goldbach-Mansky, Raphaela, Hur, Sun, Brooks, Brian P, Richards, Julia E, Hufnagel, Robert B, Gudjonsson, Johann E
المساهمون: National Institute of Allergy and Infectious Diseases, A. Alfred Taubman Medical Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Eye Institute, Roche
المصدر: Journal of Medical Genetics ; volume 59, issue 3, page 294-304 ; ISSN 0022-2593 1468-6244
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8دورية أكاديمية
المؤلفون: Prasov, Lev, Bohnsack, Brenda L., El Husny, Antonette S., Tsoi, Lam C., Bin Guan, Kahlenberg, J. Michelle, Almeida, Edmundo, Haitao Wang, Cowen, Edward W., De Jesus, Adriana A., Jani, Priyam, Billi, Allison C., Moroi, Sayoko E., Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N., Kok, Fernando, Garnai, Sarah J., Mian, Shahzad I., Chen, Marcus Y.
المصدر: Journal of Medical Genetics; Mar2022, Vol. 59 Issue 3, p294-304, 19p
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المؤلفون: Garnai, Sarah J., Huyghe, Jeroen R., Reed, David M., Scott, Kathleen M., Liebmann, Jeffrey M., Boehnke, Michael, Richards, Julia E., Ritch, Robert, Pawar, Hemant
المصدر: Molecular Vision
مصطلحات موضوعية: Adult, Male, Base Sequence, Models, Genetic, Genetic Linkage, Chromosomes, Human, Pair 22, Molecular Sequence Data, Gene Conversion, Exons, Sequence Analysis, DNA, Cataract, Pedigree, Consanguinity, Case-Control Studies, Jews, Lens, Crystalline, beta-Crystallin B Chain, Humans, Exome, Female, Child, Research Article, Aged, Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::56887c63c095825220d63a7d007e50b4Test
http://europepmc.org/articles/PMC4225141Test -
10دورية أكاديمية
المساهمون: NEI, international retina research foundation (IRRF) postdoctoral fellowship (J.E.D.), Dr. Werner Jackstaedt Foundation (A.R.), National Eye Institute
المصدر: Experimental Eye Research ; volume 155, page 85-90 ; ISSN 0014-4835
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Sensory Systems, Ophthalmology
الإتاحة: https://doi.org/10.1016Test/j.exer.2017.01.005
https://api.elsevier.com/content/article/PII:S001448351730057X?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S001448351730057X?httpAccept=text/xmlTest