المؤلفون: Dyment, David A, O'Donnell-Luria, Anne, Agrawal, Pankaj B, Coban Akdemir, Zeynep, Aleck, Kyrieckos A, Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B, Aydin, Hatip, Beggs, Alan H, Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A, Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E, Clericuzio, Carol L, Cox, Gerald F, Curry, Cynthia, de Boer, Elke, de Vries, Bert B A, Dunn, Kathryn, Dutmer, Cullen M, England, Eleina M, Fahrner, Jill A, Geckinli, Bilgen B, Genetti, Casie A, Gezdirici, Alper, Gibson, William T, Gleeson, Joseph G, Greenberg, Cheryl R, Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N, Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L, Lewis, M E Suzanne, Lowry, R Brian, López-Giráldez, Francesc, Matise, Tara C, McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J M, Posey, Jennifer E, Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S, Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L, Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S, Zhang, Yeting, Care4Rare Consortium, Centers for Mendelian Genomics, Boycott, Kym M, Bamshad, Michael J, Nickerson, Deborah A, Blue, Elizabeth E, Innes, A Micheil

المصدر: Pediatrics Research and Scholarship

مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray

العلاقة: https://digitalrepository.unm.edu/peds_pubs/404Test; https://pubmed.ncbi.nlm.nih.gov/33098347Test/

الإتاحة: https://digitalrepository.unm.edu/peds_pubs/404Test
https://pubmed.ncbi.nlm.nih.gov/33098347Test/

المؤلفون: Quintero-Rivera, Fabiola, Eno, Celeste C., Sutanto, Christine, Jones, Kelly L., Nowaczyk, Małgorzata J. M., Wong, Derek, Earl, Dawn, Mirzaa, Ghayda, Beck, Anita, Martinez-Agosto, Julian A.

المساهمون: March of Dimes Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, University of California, Los Angeles

المصدر: Human Genetics ; volume 140, issue 4, page 681-690 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-020-02240-5Test

المؤلفون: Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste

المصدر: European Journal of Human Genetics ; volume 23, issue 3, page 292-301 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.95Test
http://www.nature.com/articles/ejhg201495.pdfTest
http://www.nature.com/articles/ejhg201495Test

المؤلفون: Nikkel, Sarah M., Dauber, Andrew, Munnik, Sonja de, Connolly, Meghan, Hood, Rebecca L., Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J., Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E., Balestri, Paolo, Ben Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, Santos da Cunha, Bruna, Delaney, Louisa A., Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M., Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H., Ibrahim, Jennifer, Jacob, Claire M., Kant, Sarina G., Kim, Chong Ae, Kirk, Edwin P., Knoers, Nine V. A., Lacombe, Didier, Lee, Chung, Lo, Ivan F., Lucas, Luiza S., Mari, Francesca, Mericq, Verónica, Moilanen, Jukka S., Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T., Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L., Simon, Marleen, Slavotinek, Anne, Temple, I. Karen, Burgt, Ineke van der, Vries, Bert B. A. de, Weisfeld Adams, James D., Whiteford, Margo L., Wierczorek, Dagmar, Wit, Jan M., Fung On Yee, Connie, Beaulieu, Chandree L., White, Sue M., Bulman, Dennis E., Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M.

مصطلحات موضوعية: SRCAP

وصف الملف: application/pdf

العلاقة: Nikkel et al. Orphanet Journal of Rare Diseases 2013, 8:63; http://repositorio.uchile.cl/handle/2250/129217Test

الإتاحة: https://doi.org/10.1186/1750-1172-8-63Test
http://repositorio.uchile.cl/handle/2250/129217Test

المؤلفون: Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, Hartung, Danielle, Innes, Micheil, Kerem, Batsheva, Nowaczyk, Małgorzata J., Rivlin, Joseph, Roberts, Wendy, Senman, Lili, Summers, Anne, Szatmari, Peter, Wong, Virginia, Vincent, John B., Zeesman, Susan, Osborne, Lucy R., Cardy, Janis Oram, Kere, Juha, Scherer, Stephen W., Hannula-Jouppi, Katariina

المصدر: The American Journal of Human Genetics ; volume 79, issue 5, page 965-972 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/508902Test
https://api.elsevier.com/content/article/PII:S0002929707608404?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707608404?httpAccept=text/plainTest

المؤلفون: Krantz, Ian D, McCallum, Jennifer, DeScipio, Cheryl, Kaur, Maninder, Gillis, Lynette A, Yaeger, Dinah, Jukofsky, Lori, Wasserman, Nora, Bottani, Armand, Morris, Colleen A, Nowaczyk, Malgorzata J M, Toriello, Helga, Bamshad, Michael J, Carey, John C, Rappaport, Eric, Kawauchi, Shimako, Lander, Arthur D, Calof, Anne L, Li, Hui-hua, Devoto, Marcella, Jackson, Laird G

المصدر: Nature Genetics ; volume 36, issue 6, page 631-635 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng1364Test
http://www.nature.com/articles/ng1364.pdfTest
http://www.nature.com/articles/ng1364Test

المؤلفون: Choi, Peter T. -L., Nowaczyk, Malgorzata J. M.

المصدر: Canadian Journal of Anesthesia/Journal canadien d'anesthésie ; volume 47, issue 6, page 556-561 ; ISSN 0832-610X 1496-8975

مصطلحات موضوعية: Anesthesiology and Pain Medicine, General Medicine

الإتاحة: https://doi.org/10.1007/bf03018947Test

المؤلفون: Lowther, Chelsea, Speevak, Marsha, Armour, Christine M, Goh, Elaine S, Graham, Gail E, Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J M, Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H, Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A, Prasad, Chitra, Dick, Paul T, Hussain, Asmaa S, Walinga, Margreet, Reijenga, Renske G, Gazzellone, Matthew, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Stavropoulos, Dimitri J, McCready, Elizabeth, Bassett, Anne S

المصدر: Paediatrics Publications

مصطلحات موضوعية: Cell Adhesion Molecules, Neuronal, Child, DNA Copy Number Variations, Exons, Female, Genetic Predisposition to Disease, Genotype, Humans, Introns, Male, Microarray Analysis, Nerve Tissue Proteins, Neurodevelopmental Disorders, Penetrance, Phenotype, Sequence Deletion, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/39Test; https://ir.lib.uwo.ca/context/paedpub/article/1183/viewcontent/Molecular_characterization_of_NRXN1_deletions_from_19_263.pdfTest

الإتاحة: https://doi.org/10.1038/gim.2016.54Test
https://ir.lib.uwo.ca/paedpub/39Test
https://ir.lib.uwo.ca/context/paedpub/article/1183/viewcontent/Molecular_characterization_of_NRXN1_deletions_from_19_263.pdfTest

المؤلفون: Eroglu, Yasemen, Nguyen‐Driver, Mina, Steiner, Robert D., Merkens, Louise, Merkens, Mark, Roullet, Jean‐Baptiste, Elias, Ellen, Sarphare, Geeta, Porter, Forbes D., Li, Chumei, Tierney, Elaine, Nowaczyk, Małgorzata J., Freeman, Kurt A.

المساهمون: National Institute of Child Health and Human Development, National Heart, Lung, and Blood Institute

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 8, page 2097-2100 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38125Test

المؤلفون: Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, Wlldln, Robert S, Nowaczyk, Malgorzata J M, Elchmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M E, O'Driscoll, Mark, Gregory-Evans, Cheryl Y, Rajcan-Separovic, Evica

مصطلحات موضوعية: QM0531 Regional anatomy, QP0351 Neurophysiology and neuropsychology, QP0361 Nervous system, RJ0047.3 Genetic aspects

وصف الملف: application/pdf

العلاقة: http://sro.sussex.ac.uk/id/eprint/60085/1Test/J%20Clin%20Invest%20Insight.%202016.%202p15p16.1%20microdel%20syndrome.pdf; Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, Wlldln, Robert S, Nowaczyk, Malgorzata J M, Elchmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M E, O'Driscoll, Mark, Gregory-Evans, Cheryl Y and Rajcan-Separovic, Evica (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. Journal of Clinical Investigation Insight, 1 (3). e85461 1-20. ISSN 2379-3708

الإتاحة: https://doi.org/10.1172/jci.insight.85461Test
http://sro.sussex.ac.uk/id/eprint/60085Test/
http://sro.sussex.ac.uk/id/eprint/60085/1Test/J%20Clin%20Invest%20Insight.%202016.%202p15p16.1%20microdel%20syndrome.pdf