المؤلفون: Lin, Fumin, Cao, Kajia, Chang, Fengqi, Oved, Joseph H., Luo, Minjie, Fan, Zhiqian, Schubert, Jeffrey, Wu, Jinhua, Zhong, Yiming, Gallo, Daniel J., Denenberg, Elizabeth H., Chen, Jiani, Fanning, Elizabeth A., Lambert, Michele P., Paessler, Michele E., Surrey, Lea F., Zelley, Kristin, MacFarland, Suzanne, Kurre, Peter, Olson, Timothy S., Li, Marilyn M.

المساهمون: Children's Hospital of Philadelphia

المصدر: The Journal of Molecular Diagnostics ; volume 26, issue 3, page 191-201 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2023.11.010Test
https://api.elsevier.com/content/article/PII:S1525157823002957?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157823002957?httpAccept=text/plainTest

المؤلفون: Luo, Minjie, Wong, Derek, Zelley, Kristin, Wu, Jinhua, Schubert, Jeffery, Denenberg, Elizabeth H, Fanning, Elizabeth A, Chen, Jiani, Gallo, Daniel, Golenberg, Netta, Patel, Maha, Conlin, Laura K, Maxwell, Kara N, Wertheim, Gerald B, Surrey, Lea F, Zhong, Yiming, Brodeur, Garrett M, MacFarland, Suzanne P, Li, Marilyn M

المصدر: JNCI: Journal of the National Cancer Institute ; ISSN 0027-8874 1460-2105

الإتاحة: https://doi.org/10.1093/jnci/djae102Test

المؤلفون: Xu, Feng, Aref-Eshghi, Erfan, Wu, Jinhua, Schubert, Jeffrey, Patel, Maha, Fan, Zhiqian, Cao, Kajia, Long, Ariel, Denenberg, Elizabeth, Fanning, Elizabeth, Wilmoth, Donna, Wertheim, Gerald, Luo, Minjie, Conlin, Laura, Bhatti, Tricia, Dain, Aleksandra, Zelley, Kristin, Balamuth, Naomi, MacFarland, Suzanne, Li, Marilyn, Zhong, Yiming

المصدر: Genetics in Medicine ; volume 24, issue 3, page S182 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.323Test
https://api.elsevier.com/content/article/PII:S1098360022003409?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022003409?httpAccept=text/plainTest

المؤلفون: Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., Luo, Minjie

المصدر: The Journal of Pediatrics ; volume 262, page 113620 ; ISSN 0022-3476

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.jpeds.2023.113620Test
https://api.elsevier.com/content/article/PII:S0022347623004833?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022347623004833?httpAccept=text/plainTest

المؤلفون: Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill, Suri, Mohnish, Lewis, Andrea, Nugent, Kimberly, Roeder, Elizabeth, Littlejohn, Rebecca, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph, Graham, Brett, Harris, Jill, Gibson, James, Pastore, Matthew, McBride, Kim, Komara, Makanko, Al-Gazali, Lihadh, Shamsi, Aisha, Fanning, Elizabeth, Wierenga, Klaas, Scott, Daryl, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J., Burrage, Lindsay, Seaver, Laurie, Maldergem, Lionel, Mahida, Sonal, Soul, Janet, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna, Gibbs, Richard, Elsea, Sarah, Posey, Jennifer

مصطلحات موضوعية: Medicine, Genetics, FOS Biological sciences, Neuroscience, Mental Health, Infectious Diseases, FOS Health sciences, Virology, Computational Biology

الإتاحة: https://doi.org/10.6084/m9.figshare.c.4419248Test
https://springernature.figshare.com/collections/De_novo_and_inherited_TCF20_pathogenic_variants_are_associated_with_intellectual_disability_dysmorphic_features_hypotonia_and_neurological_impairments_with_similarities_to_Smith_Magenis_syndrome/4419248Test

المؤلفون: Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

المساهمون: Children's Hospital, University of Helsinki, Clinicum, University Management, Lastentautien yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: 3111 Biomedicine, FN1, Fibronectin, Skeletal dysplasia, Corner-fracture, Coxa vara, Mutation, MATRIX, GLOMERULOPATHY, OSTEOBLAST DIFFERENTIATION, PROTEIN, RESORPTION, BONE

وصف الملف: application/pdf

العلاقة: Costantini , A , Valta , H , Baratang , N V , Yap , P , Bertola , D R , Yamamoto , G L , Kim , C A , Chen , J , Wierenga , K J , Fanning , E A , Escobar , L , McWalter , K , McLaughlin , H , Willaert , R , Begtrup , A , Alm , J J , Reinhardt , D P , Mäkitie , O & Campeau , P M 2019 , ' Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” ' , Bone , vol. 121 , pp. 163-171 . https://doi.org/10.1016/j.bone.2018.12.020Test; RIS: urn:F0DFD6F5C5319D1C7C840B6C3E830D16; ORCID: /0000-0002-4547-001X/work/155651693; http://hdl.handle.net/10138/308775Test; 028b825d-7441-4de4-883d-edb3da6ae59e; 85060349366; 000460495000018

الإتاحة: http://hdl.handle.net/10138/308775Test

المؤلفون: Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Corrections

وصف الملف: application/pdf

العلاقة: Genome Medicine; Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., … Liu, P. (2019). Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome medicine, 11(1), 16. doi:10.1186/s13073-019-0630-1; https://hdl.handle.net/1805/20236Test

الإتاحة: https://doi.org/10.1186/s13073-019-0630-1Test
https://hdl.handle.net/1805/20236Test

المؤلفون: Fanning, Elizabeth

المصدر: Practical Assessment, Research, and Evaluation

مصطلحات موضوعية: Survey, Questionnaire

وصف الملف: application/pdf

العلاقة: https://scholarworks.umass.edu/pare/vol10/iss1/12Test; https://doi.org/10.7275/s84t-8a63Test

الإتاحة: https://doi.org/10.7275/s84t-8a63Test
https://scholarworks.umass.edu/pare/vol10/iss1/12Test

المؤلفون: Au, P. Y. Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K., Graham, Gail E., Galarreta, Carolina, Jones, Marilyn C., Kini, Usha, Stewart, Helen, Parboosingh, Jillian S., Kline, Antonie D., Innes, A. Micheil

المصدر: European Journal of Human Genetics ; volume 26, issue 9, page 1272-1281 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-018-0187-2Test
http://www.nature.com/articles/s41431-018-0187-2Test
http://www.nature.com/articles/s41431-018-0187-2.pdfTest

المؤلفون: Fanning, Elizabeth, Bunch, John, Brighton, Catherine

المصدر: International Journal on E-Learning. Apr 2011 10(2):127-144.

تمت مراجعته من قبل الزملاء: Y

Page Count: 18

الواصفات: Advertising, Observation, Virtual Classrooms, Innovation, Interviews, Program Implementation, Production Techniques, Computer System Design, Systems Development, Instructional Systems, Models, Case Studies, Educational Games, Video Games, Electronic Learning, Learner Engagement, Comparative Analysis

الوصول الحر: http://www.editlib.org/p/33059Test