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: Aradhya, Swaroop, Facio, Flavia M., Metz, Hillery, Manders, Toby, Colavin, Alexandre, Kobayashi, Yuya, Nykamp, Keith, Johnson, Britt, Nussbaum, Robert L.

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 193, issue 3 ; ISSN 1552-4868 1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.32057Test

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: Sapp, Julie C., Facio, Flavia M., Cooper, Diane, Lewis, Katie L., Modlin, Emily, van der Wees, Philip, Biesecker, Leslie G.

المصدر: Genetics in Medicine ; volume 23, issue 12, page 2260-2269 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01295-7Test
https://www.nature.com/articles/s41436-021-01295-7.pdfTest
https://www.nature.com/articles/s41436-021-01295-7Test
https://api.elsevier.com/content/article/PII:S1098360021054319?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021054319?httpAccept=text/plainTest

المؤلفون: Aradhya, Swaroop, Facio, Flavia M., Metz, Hillery, Manders, Toby, Colavin, Alexandre, Kobayashi, Yuya, Nykamp, Keith, Johnson, Britt, Nussbaum, Robert L.

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 193, issue 3 ; ISSN 1552-4868 1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.31982Test

المؤلفون: Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop

المصدر: JAMA Network Open ; volume 6, issue 10, page e2339571 ; ISSN 2574-3805

الإتاحة: https://doi.org/10.1001/jamanetworkopen.2023.39571Test
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2810999/chen_2023_oi_231154_1697472970.67569.pdfTest

المؤلفون: Feero, W. Gregory, Facio, Flavia M., Glogowski, Emily A., Hampel, Heather L., Stopfer, Jill E., Eidem, Haley, Pizzino, Amy M., Barton, David K., Biesecker, Leslie G.

المصدر: Genetics in Medicine ; volume 17, issue 9, page 753-756 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/gim.2014.179Test
http://www.nature.com/articles/gim2014179.pdfTest
http://www.nature.com/articles/gim2014179Test
https://api.elsevier.com/content/article/PII:S109836002103207X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109836002103207X?httpAccept=text/plainTest

المؤلفون: Lehky, Tanya, Joseph, Reversa, Toro, Camilo, Wu, Tianxia, Van Ryzin, Carol, Gropman, Andrea, Facio, Flavia M., Webb, Bryn D., Jabs, Ethylin W., Barry, Brenda S., Engle, Elizabeth C., Collins, Francis S., Manoli, Irini

المصدر: Muscle & Nerve ; volume 63, issue 4, page 516-524 ; ISSN 0148-639X 1097-4598

الإتاحة: https://doi.org/10.1002/mus.27159Test

المؤلفون: Jamal, Leila, Sapp, Julie C, Lewis, Katie, Yanes, Tatiane, Facio, Flavia M, Biesecker, Leslie G, Biesecker, Barbara B

المصدر: European Journal of Human Genetics ; volume 22, issue 8, page 964-968 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2013.276Test
http://www.nature.com/articles/ejhg2013276.pdfTest
http://www.nature.com/articles/ejhg2013276Test

المؤلفون: Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G

المصدر: BMC Medical Genomics, Vol 5, Iss 1, p 45 (2012)

مصطلحات موضوعية: Whole genome sequencing, Whole exome sequencing, Informed consent, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1755-8794/5/45Test; https://doaj.org/toc/1755-8794Test; https://doaj.org/article/63f8c333229a412d83627738c7259e66Test

الإتاحة: https://doi.org/10.1186/1755-8794-5-45Test
https://doaj.org/article/63f8c333229a412d83627738c7259e66Test