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1دورية أكاديمية
المؤلفون: Roux, Isabelle, Fenollar-Ferrer, Cristina, Lee, Hyun, Chattaraj, Parna, Lopez, Ivan, Han, Kyungreem, Honda, Keiji, Brewer, Carmen, Butman, John, Morell, Robert, Martin, Donna, Griffith, Andrew
المصدر: Human Genetics. 142(10)
مصطلحات موضوعية: Animals, Mice, Alleles, Deafness, DNA Helicases, Hearing Loss, Hearing Loss, Sensorineural, Vestibular Aqueduct
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/04w8b8x3Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Hufnagel, Robert B, Liang, Wendi, Duncan, Jacque L, Brewer, Carmen C, Audo, Isabelle, Ayala, Allison R, Branham, Kari, Cheetham, Janet K, Daiger, Stephen P, Durham, Todd A, Guan, Bin, Heon, Elise, Hoyng, Carel B, Iannaccone, Alessandro, Kay, Christine N, Michaelides, Michel, Pennesi, Mark E, Singh, Mandeep S, Ullah, Ehsan, Group, for the Foundation Fighting Blindness Consortium Investigator
المصدر: Human Mutation. 43(5)
مصطلحات موضوعية: Genetics, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Eye, Extracellular Matrix Proteins, Genetic Association Studies, Humans, Mutation, Retinitis Pigmentosa, Usher Syndromes, genotype, hearing loss, photoreceptor degeneration, retinitis pigmentosa, USH2A, Usher syndrome, Foundation Fighting Blindness Consortium Investigator Group, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/260273dhTest
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4دورية أكاديمية
المؤلفون: Iannaccone, Alessandro, Brewer, Carmen C, Cheng, Peiyao, Duncan, Jacque L, Maguire, Maureen G, Audo, Isabelle, Ayala, Allison R, Bernstein, Paul S, Bidelman, Gavin M, Cheetham, Janet K, Doty, Richard L, Durham, Todd A, Hufnagel, Robert B, Myers, Mark H, Stingl, Katarina, Zein, Wadih M, Group, Foundation Fighting Blindness Consortium Investigator
المصدر: American Journal of Medical Genetics Part A. 185(12)
مصطلحات موضوعية: Neurodegenerative, Prevention, Neurosciences, Clinical Research, Eye Disease and Disorders of Vision, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Ear, Adolescent, Adult, Age of Onset, Extracellular Matrix Proteins, Female, Genetic Predisposition to Disease, Hearing Loss, Sensorineural, Humans, Male, Middle Aged, Mutation, Pedigree, Retinal Degeneration, Retinitis Pigmentosa, Smell, Usher Syndromes, Young Adult, autosomal recessive retinitis pigmentosa, olfaction, sensorineural hearing loss, Usher syndrome type 2, Foundation Fighting Blindness Consortium Investigator Group, Genetics, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3j27j4krTest
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5دورية أكاديمية
المؤلفون: Vieta-Ferrer, Emile R., Ullah, Ehsan, Blain, Delphine, Christensen, Julie A., Brewer, Carmen C., Balow, James E., George, Aman, Hufnagel, Robert B., Cogliati, Tiziana, Brooks, Brian P.
المساهمون: no funding
المصدر: Ophthalmic Genetics ; volume 44, issue 2, page 182-185 ; ISSN 1381-6810 1744-5094
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6دورية أكاديمية
المؤلفون: Wafa, Talah, Zalewski, Christopher, Tamaki, Chizuko, Barac-Cikoja, Dragana, Bakke, Matthew, Brewer, Carmen
المساهمون: National Institute on Deafness and Other Communication Disorders
المصدر: Gait & Posture ; volume 100, page 188-192 ; ISSN 0966-6362
مصطلحات موضوعية: Rehabilitation, Orthopedics and Sports Medicine, Biophysics
الإتاحة: https://doi.org/10.1016/j.gaitpost.2022.12.010Test
https://api.elsevier.com/content/article/PII:S0966636222007305?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0966636222007305?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M, Lehky, Tanya, Brewer, Carmen, Baker, Eva H, Thurm, Audrey, Farmer, Cristan A, Rosenzweig, Sergio D, Lyons, Jonathan J, Schreiber, John M, Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G, Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A, Kimonis, Virginia, Gahl, William A, Wolfe, Lynne
المصدر: Genetics in Medicine. 19(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Clinical Trials and Supportive Activities, Adolescent, Adult, Albumins, Cerebrospinal Fluid Proteins, Child, Child, Preschool, Developmental Disabilities, Female, Glycoproteins, Glycosylation, Humans, Male, Mutation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Phenotype, Young Adult, deglycosylation, glycosylation, natural history, NGLY1, NGLY1-CDDG, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3cf4782rTest
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8دورية أكاديمية
المؤلفون: D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.
المساهمون: National Human Genome Research Institute
المصدر: Genetics in Medicine ; page 101144 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2024.101144Test
https://api.elsevier.com/content/article/PII:S1098360024000777?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000777?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Pierpaoli, Carlo, Nayak, Amritha, Hafiz, Rakibul, Irfanoglu, M. Okan, Chen, Gang, Taylor, Paul, Hallett, Mark, Hoa, Michael, Pham, Dzung, Chou, Yi-Yu, Moses, Anita D., van der Merwe, André J., Lippa, Sara M., Brewer, Carmen C., Zalewski, Chris K., Zampieri, Cris, Turtzo, L. Christine, Shahim, Pashtun, Chan, Leighton, Moore, Brian, Stamps, Lauren, Flynn, Spencer, Fontana, Julia, Tata, Swathi, Lo, Jessica, Fernandez, Mirella A., Lori-Joseph, Annie, Matsubara, Jesse, Goldberg, Julie, Nguyen, Thuy-Tien D., Sasson, Noa, Lely, Justine, Smith, Bryan, King, Kelly A., Chisholm, Jennifer, Christensen, Julie, Magone, M. Teresa, Cousineau-Krieger, Chantal, French, Louis M., Yonter, Simge, Attaripour, Sanaz, Lai, Chen
المصدر: JAMA ; volume 331, issue 13, page 1122 ; ISSN 0098-7484
الإتاحة: https://doi.org/10.1001/jama.2024.2424Test
https://jamanetwork.com/journals/jama/articlepdf/2816532/jama_pierpaoli_2024_oi_240023_1711564184.75011.pdfTest -
10دورية أكاديمية
المؤلفون: Chan, Leighton, Hallett, Mark, Zalewski, Chris K., Brewer, Carmen C., Zampieri, Cris, Hoa, Michael, Lippa, Sara M., Fitzgibbon, Edmond, French, Louis M., Moses, Anita D., van der Merwe, André J., Pierpaoli, Carlo, Turtzo, L. Christine, Yonter, Simge, Shahim, Pashtun, Moore, Brian, Stamps, Lauren, Flynn, Spencer, Fontana, Julia, Tata, Swathi, Lo, Jessica, Fernandez, Mirella A., Joseph, Annie-Lori, Matsubara, Jesse, Goldberg, Julie, Nguyen, Thuy-Tien D., Sasson, Noa, Lely, Justine, Smith, Bryan, King, Kelly A., Chisholm, Jennifer, Christensen, Julie, Magone, M. Teresa, Cousineau-Krieger, Chantal, Hafiz, Rakibul, Nayak, Amritha, Irfanoglu, Okan, Attaripour, Sanaz, Lai, Chen, Smith, Wendy B.
المصدر: JAMA ; volume 331, issue 13, page 1109 ; ISSN 0098-7484
الإتاحة: https://doi.org/10.1001/jama.2024.2413Test
https://jamanetwork.com/journals/jama/articlepdf/2816533/jama_chan_2024_oi_240022_1711564190.69903.pdfTest