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: Offit, Michelle B., Mohammad Khanli, Hadi, Wu, Tianxia, Lehky, Tanya J.

المصدر: Muscle & Nerve; Mar2024, Vol. 69 Issue 3, p288-294, 7p

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: Lehky, Tanya J., Sackstein, Paul, Tamura, Deborah, Quezado, Martha, Wu, Tianxia, Khan, Sikandar G., Patronas, Nicholas J., Wiggs, Edythe, Brewer, Carmen C., DiGiovanna, John J., Kraemer, Kenneth H.

المساهمون: Intramural Research Program, National Institutes of Neurological Disorders and Stroke, Intramural Research Program, National Cancer Institute, Intramural Research Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health

المصدر: BMC Neurology ; volume 21, issue 1 ; ISSN 1471-2377

مصطلحات موضوعية: Neurology (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s12883-021-02414-2Test

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik-Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren-Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmueller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bonnemann, Carsten G.

المصدر: Donkervoort , S , Mohassel , P , Laugwitz , L , Zaki , M S , Kamsteeg , E-J , Maroofian , R , Chao , K R , Verschuuren-Bemelmans , C C , Horber , V , Fock , A J M , McCarty , R M , Jain , M S , Biancavilla , V , McMacken , G , Nalls , M , Voermans , N C , Elbendary , H M , Snyder , M , Cai , C , Lehky , T J , Stanley , V , Iannaccone , S T , ....

مصطلحات موضوعية: congenital myasthenic syndrome, neuromuscular junction, presynaptic CMS, synaptotagmins, SYT2, NEUROTRANSMITTER RELEASE, SYNAPTOTAGMIN-I, MESSENGER-RNAS, MUTATIONS, GENE

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907cTest

الإتاحة: https://doi.org/10.1002/ajmg.a.61765Test
https://hdl.handle.net/11370/07cd146d-a8e3-4f3c-9772-2e9d8d57907cTest
https://research.rug.nl/en/publications/07cd146d-a8e3-4f3c-9772-2e9d8d57907cTest
https://pure.rug.nl/ws/files/132904593/Biallelic_loss_of_function_variants_in_SYT2_cause_a_treatable_congenital_onset_presynaptic_myasthenic_syndrome.pdfTest

المؤلفون: Sadeghi, Neda, Hutchinson, Elizabeth, Van Ryzin, Carol, FitzGibbon, Edmond J, Butman, John A, Webb, Bryn D, Facio, Flavia, Brooks, Brian P, Collins, Francis S, Jabs, Ethylin Wang, Engle, Elizabeth C, Manoli, Irini, Pierpaoli, Carlo, Erazo, Monica, Frempong, Tamiesha, Hao, Ke, Naidich, Thomas P, Rucker, Janet C, Zhang, Zhongyang, Andrews, Caroline, Barry, Brenda J, DiGioia, Silvio Alessandro, Engle, Elizabeth, Hunter, David G, MacKinnon, Sarah E, Robson, Caroline, Rose, Matthew, Biesecker, Barbara B, Bonnycastle, Lori L, Brewer, Carmen C, Chien, Wade W, Chines, Peter S, Farrell, Kathleen, Gropman, Andrea L, Jain, Mina S, King, Kelly A, Lehky, Tanya J, Lee, Janice, Liberton, Denise K, Narisu, Narisu, Paul, Scott M

المساهمون: Intramural Research Programs, National Institute of Biomedical Imaging and Bioengineering, NIBIB, National Human Genome Research Institute, NHGRI, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NICHD, National Institute of Health Clinical Center, and National Eye Institute, NEI, Moebius Syndrome Foundation

المصدر: Brain Communications ; volume 2, issue 1 ; ISSN 2632-1297

مصطلحات موضوعية: General Engineering

الإتاحة: https://doi.org/10.1093/braincomms/fcaa014Test
http://academic.oup.com/braincomms/article-pdf/2/1/fcaa014/38498617/fcaa014.pdfTest

المؤلفون: Offit, Michelle B., Mohammad Khanli, Hadi, Wu, Tianxia, Lehky, Tanya J.

المساهمون: National Institutes of Health

المصدر: Muscle & Nerve ; volume 69, issue 3, page 288-294 ; ISSN 0148-639X 1097-4598

الإتاحة: https://doi.org/10.1002/mus.27978Test

المؤلفون: Jha, Smita, Cowen, Edward W, Lehky, Tanya J, Alter, Katharine, Flynn, Lauren, Reynolds, James C, Lange, Eileen, Katz, James D, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy

المساهمون: National Institute of Arthritis and Musculoskeletal and Skin Diseases

المصدر: JBMR Plus ; volume 3, issue 8 ; ISSN 2473-4039 2473-4039

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbm4.10214Test

المؤلفون: Jha, Smita, Fratzl-Zelman, Nadja, Roschger, Paul, Papadakis, Georgios Z, Cowen, Edward W, Kang, Heeseog, Lehky, Tanya J, Alter, Katharine, Deng, Zuoming, Ivovic, Aleksandra, Flynn, Lauren, Reynolds, James C, Dasgupta, Abhijit, Miettinen, Markku, Lange, Eileen, Katz, James, Klaushofer, Klaus, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy

المساهمون: National Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Journal of Bone and Mineral Research ; volume 34, issue 1, page 145-156 ; ISSN 0884-0431 1523-4681

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbmr.3577Test
https://academic.oup.com/jbmr/article-pdf/34/1/145/56656571/jbmr3577.pdfTest

المؤلفون: Grunseich, Christopher, Schindler, Alice B., Chen, Ke-lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J., Baker, Eva H., Maragakis, Nicholas J., Tifft, Cynthia J., Fischbeck, Kenneth H.

المصدر: Journal of Neurology ; volume 262, issue 4, page 1066-1068 ; ISSN 0340-5354 1432-1459

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1007/s00415-015-7683-xTest