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

المؤلفون: Martinez Sanchez, Mayra, Whitman, Mary C.

المساهمون: National Eye Institute

المصدر: Frontiers in Ophthalmology ; volume 3 ; ISSN 2674-0826

الإتاحة: https://doi.org/10.3389/fopht.2023.1233866Test

المؤلفون: Jin, Kimberly, Aboobakar, Inas F., Whitman, Mary C., Oke, Isdin

المصدر: JAMA Ophthalmology; May2024, Vol. 142 Issue 5, p472-475, 4p

المؤلفون: Whitman, Mary C., Engle, Elizabeth C.

المصدر: Reference Module in Neuroscience and Biobehavioral Psychology ; ISBN 9780128093245

الإتاحة: https://doi.org/10.1016/b978-0-443-13820-1.00013-xTest
https://api.elsevier.com/content/article/PII:B978044313820100013X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B978044313820100013X?httpAccept=text/plainTest

المؤلفون: Gregg, Austin T, Gateman, Taylor, Whitman, Mary C

المصدر: J AAPOS ; ISSN:1528-3933

العلاقة: https://doi.org/10.1016/j.jaapos.2024.103951Test; https://pubmed.ncbi.nlm.nih.gov/38866323Test

الإتاحة: https://doi.org/10.1016/j.jaapos.2024.103951Test
https://pubmed.ncbi.nlm.nih.gov/38866323Test

المؤلفون: Martinez Sanchez, Mayra, Chan, Wai-Man, MacKinnon, Sarah E., Barry, Brenda, Hunter, David G., Engle, Elizabeth C., Whitman, Mary C.

المصدر: JAMA Ophthalmology ; volume 142, issue 3, page 243 ; ISSN 2168-6165

الإتاحة: https://doi.org/10.1001/jamaophthalmol.2023.6782Test
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2814945/jamaophthalmology_martinez_sanchez_2024_oi_230089_1710970236.84716.pdfTest

المؤلفون: Whitman, Mary C., Gilette, Nicole M., Bell, Jessica L., Kim, Seoyoung A., Tischfield, Max, Engle, Elizabeth C.

المصدر: Developmental Biology ; volume 490, page 126-133 ; ISSN 0012-1606

مصطلحات موضوعية: Cell Biology, Developmental Biology, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ydbio.2022.07.010Test
https://api.elsevier.com/content/article/PII:S0012160622001439?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0012160622001439?httpAccept=text/plainTest

المؤلفون: Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.

المصدر: Whitman , M C , Barry , B J , Robson , C D , Facio , F M , Van Ryzin , C , Chan , W M , Lehky , T J , Thurm , A , Zalewski , C , King , K A , Brewer , C , Almpani , K , Lee , J S , Delaney , A , FitzGibbon , E J , Lee , P R , Toro , C , Paul , S M , Abdul-Rahman , O A , Webb , B D , Jabs , E W , ....

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Adolescent, Adult, Amino Acid Substitution, Arginine, Child, Preschool, Facial Paralysis/diagnosis, Female, Fibrosis/diagnosis, Histidine, Humans, Infant, Male, Mutation, Ophthalmoplegia/diagnosis, Peripheral Nervous System Diseases/diagnosis, Syndrome, Tubulin/genetics, Young Adult

الإتاحة: https://doi.org/10.1007/s00439-021-02379-9Test
https://pure.au.dk/portal/da/publications/tubb3-arg262his-causes-a-recognizable-syndrome-including-cfeom3-facial-palsy-joint-contractures-and-earlyonset-peripheral-neuropathyTest(631c97d2-eed9-4d79-a46d-e0d393fc41f5).html
http://www.scopus.com/inward/record.url?scp=85117103342&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656246/pdf/nihms-1757235.pdfTest

المؤلفون: Whitman, Mary C., Engle, Elizabeth C.

المصدر: Fundamentals of Pediatric Neuro-Ophthalmology ; page 123-126 ; ISBN 9783031161469 9783031161476

الإتاحة: https://doi.org/10.1007/978-3-031-16147-6_21Test

المؤلفون: Boyson, Jonathan E., Erskine, Robert, Whitman, Mary C., Chiu, Michael, Lau, Julie M., Koopman, Louise A., Valter, Markus M., Angelisova, Pavla, Horejsi, Václav, Stromfinger, Jack L.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2002 Dec 01. 99(25), 16180-16185.

الوصول الحر: https://www.jstor.org/stable/3073928Test