المؤلفون: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel

المصدر: Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

مصطلحات موضوعية: 6p deletions, Copy-number variants, Array comparative genomic hybridization, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.molecularcytogenetics.org/content/5/1/17Test; https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2Test

المؤلفون: Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100188 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100188Test
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/plainTest

المؤلفون: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E. H., Volker-Touw, Catharina M. L., van Gassen, Koen L. I., van Binsbergen, Ellen, Pfundt, Rolph, Gardeitchik, Thatjana, de Vries, Bert B. A., Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Iqbal, Muhammad

المصدر: Harris , H K , Nakayama , T , Lai , J , Zhao , B , Argyrou , N , Gubbels , C S , Soucy , A , Genetti , C A , Suslovitch , V , Rodan , L H , Tiller , G E , Lesca , G , Gripp , K W , Asadollahi , R , Hamosh , A , Applegate , C D , Turnpenny , P D , Simon , M E H , Volker-Touw , C M L , van Gassen , K L I , van Binsbergen , E ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://hdl.handle.net/11370/0cec700f-320f-489c-b994-f6f3010f048bTest
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048bTest
https://pure.rug.nl/ws/files/177557532/s41436_021_01114_z.pdfTest

المؤلفون: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 929-941 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.017Test
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/plainTest

المؤلفون: Doherty, Emily S, Lacbawan, Felicitas, Hadley, Donald W, Brewer, Carmen, Zalewski, Christopher, Kim, H Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L, Hart, Thomas C, Brooks, Brian P, Immken, LaDonna, Lowry, R Brian, Kimonis, Virginia, Shanske, Alan L, Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald‐McGinn, Donna, Zackai, Elaine H, Muenke, Maximilian

المصدر: American Journal of Medical Genetics Part A, vol 143A. (24)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Rare Diseases, Clinical Trials and Supportive Activities, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adult, Aged, Audiometry, Child, Preschool, Craniosynostoses, Developmental Disabilities, Female, Hearing Loss, Sensorineural, Humans, Infant, Male, Mutation, Pedigree, Phenotype, Receptor, Fibroblast Growth Factor, Type 3, Sex Factors, Speech Disorders, Syndrome, Tomography, X-Ray Computed, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/27h6d419Test

المؤلفون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

المساهمون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, Ladonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Areli, Mahoney, Maurice J., Maystadt, Isabelle, Mcdougall, Carey, Mcentagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

مصطلحات موضوعية: codons 844-848, CSRD, genotype-phenotype correlation, missense mutation, MPNST, neurofibromatosis type 1, NF1, plexiform neurofibroma, spinal NF, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29290338; info:eu-repo/semantics/altIdentifier/wos/WOS:000419305500006; volume:102; issue:1; firstpage:69; lastpage:87; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3264121Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040561423; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://hdl.handle.net/11577/3264121Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

المؤلفون: Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan

المصدر: Genetics in Medicine ; volume 21, issue 7, page 1652-1656 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0358-0Test
http://www.nature.com/articles/s41436-018-0358-0.pdfTest
http://www.nature.com/articles/s41436-018-0358-0Test
https://api.elsevier.com/content/article/PII:S1098360021016804?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021016804?httpAccept=text/plainTest

المؤلفون: Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

المصدر: Genetics in Medicine ; volume 21, issue 3, page 663-675 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0085-6Test
http://www.nature.com/articles/s41436-018-0085-6.pdfTest
http://www.nature.com/articles/s41436-018-0085-6Test
https://api.elsevier.com/content/article/PII:S1098360021010169?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021010169?httpAccept=text/plainTest

المؤلفون: Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi-Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: DDX3X, Intellectual disabilities, Developmental delays

وصف الملف: application/pdf

العلاقة: Annals of Clinical and Translational Neurology; Wang, X., Posey, J. E., Rosenfeld, J. A., Bacino, C. A., Scaglia, F., Immken, L., … Moretti, P. (2018). Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Annals of clinical and translational neurology, 5(10), 1277–1285. doi:10.1002/acn3.622; https://hdl.handle.net/1805/19250Test

الإتاحة: https://doi.org/10.1002/acn3.622Test
https://hdl.handle.net/1805/19250Test

المؤلفون: Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.

المصدر: Clinical Case Reports ; volume 6, issue 7, page 1208-1213 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.1575Test