-
1دورية أكاديمية
المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, 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 M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, 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 E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
المصدر: Orphanet Journal of Rare Diseases. 8(1)
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6r91w5r2Test
-
2دورية أكاديمية
المؤلفون: Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jurgen
المساهمون: Department of Pediatrics
المصدر: Human mutation ; 28 ; 2 ; 204-5
مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Pedigree, Phenotype, Syndrome, Transcription Factors, Genetics and Genomics, Medical Genetics, Pediatrics
العلاقة: Link to Article in PubMed; http://dx.doi.org/10.1002/humu.9476Test; Hum Mutat. 2007 Feb;28(2):204-5. Link to article on publisher's site; 1059-7794 (Linking); http://hdl.handle.net/20.500.14038/43269Test; https://escholarship.umassmed.edu/peds_genetics/13Test; 2742433; peds_genetics/13
الإتاحة: https://doi.org/10.1002/humu.9476Test
https://doi.org/20.500.14038/43269Test
https://hdl.handle.net/20.500.14038/43269Test
https://escholarship.umassmed.edu/peds_genetics/13Test -
3دورية أكاديمية
المؤلفون: Nikkel, Sarah M., Dauber, Andrew, De Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J.M., Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E., Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, Da Cunha, Bruna Santos, Delaney, Louisa A., Destree, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M.C., Heron, Delphine, Hoischen, Alexander, Honey, Engela M., Hoefsloot, Lies H., Ibrahim, Jennifer, Jacob, Claire M., Kant, Sarina G., Kim, Chong Ae, Kirk, Edwin P., Knoers, Nine V.A.M., Lacombe, Didier, Lee, Chung, Lo, Ivan F.M., Lucas, Luiza S., Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S., Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T., Pope, Kate, Price, Susan, Renieri, Alessandra, Sa, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L., Simon, Marleen E.H., Slavotinek, Anne, Temple, I. Karen, Van der Burgt, Ineke, De Vries, Bert B.A., Weisfeld-Adams, James D., Whiteford, Margo L., Wit, Jan M., Yee, Connie Fung On, Beaulieu, Chandree L., FORGE Canada Consortium, White, Sue M., Bulman, Dennis E., Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M.
مصطلحات موضوعية: SRCAP, Phenotype, Short stature, Floating-Harbor syndrome (FHS)
وصف الملف: application/pdf
العلاقة: Nikkel et al.: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases 2013 8:63.; http://hdl.handle.net/2263/40307Test
-
4دورية أكاديمية
المؤلفون: Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
المصدر: The American Journal of Human Genetics ; volume 90, issue 2, page 308-313 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.001Test
https://api.elsevier.com/content/article/PII:S0002929711005362?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929711005362?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Van Der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G.Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tiong, Yang Tan, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van Der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.
المصدر: Rice , G , Patrick , T , Parmar , R , Taylor , C F , Aeby , A , Aicardi , J , Artuch , R , Montalto , S A , Bacino , C A , Barroso , B , Baxter , P , Benko , W S , Bergmann , C , Bertini , E , Biancheri , R , Blair , E M , Blau , N , Bonthron , D T , Briggs , T , Brueton , L A , Brunner , H G , Burke , C J , Carr , ....
الإتاحة: https://doi.org/10.1086/521373Test
https://research.vumc.nl/en/publications/679ce1b1-4494-45c0-822d-b1e0d1619319Test
http://www.scopus.com/inward/record.url?scp=35349019691&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Aganna, Ebun, Hammond, Linda, Hawkins, Philip N., Aldea, Anna, McKee, Shane A., van Amstel, Hans Kristian Ploos, Mischung, Claudia, Kusuhara, Koichi, Saulsbury, Frank T., Lachmann, Helen J., Bybee, Alison, McDermott, Elizabeth M., La Regina, Micaela, Arostegui, Juan I., Campistol, Josep M., Worthington, Sharron, High, Kevin P., Molloy, Michael G., Baker, Nicholas, Bidwell, Jeff L., Castañer, José L., Whiteford, Margo L., Janssens‐Korpola, P. L., Manna, Raffaele, Powell, Richard J., Woo, Patricia, Solis, Pilar, Minden, Kirsten, Frenkel, Joost, Yagüe, Jordi, Mirakian, Rita M., Hitman, Graham A., McDermott, Michael F.
المساهمون: Wellcome Trust, Marató de TV3, Medical Research Council, UK
المصدر: Arthritis & Rheumatism ; volume 48, issue 9, page 2632-2644 ; ISSN 0004-3591 1529-0131
-
7دورية أكاديمية
المؤلفون: Oh, Jangsuk, Ho, Lingling, Ala-Mello, Sirpa, Amato, Dominick, Armstrong, Linda, Bellucci, Sylvia, Carakushansky, Gerson, Ellis, Julia P., Fong, Chin-To, Green, Jane S., Heon, Elise, Legius, Eric, Levin, Alex V., Nieuwenhuis, H. Karel, Pinckers, A., Tamura, Naoaki, Whiteford, Margo L., Yamasaki, Hisato, Spritz, Richard A.
المصدر: The American Journal of Human Genetics ; volume 62, issue 3, page 593-598 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/301757Test
https://api.elsevier.com/content/article/PII:S0002929707638397?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707638397?httpAccept=text/plainTest -
8دورية أكاديمية
المصدر: Clinical Dysmorphology ; volume 26, issue 4, page 238-242 ; ISSN 0962-8827
الإتاحة: https://doi.org/10.1097/mcd.0000000000000187Test
https://journals.lww.com/00019605-201710000-00011Test -
9دورية أكاديمية
المؤلفون: Whiteford, Margo L.
المصدر: Reproductive Toxicology ; volume 48, page 10 ; ISSN 0890-6238
مصطلحات موضوعية: Toxicology
الإتاحة: https://doi.org/10.1016/j.reprotox.2014.07.067Test
https://api.elsevier.com/content/article/PII:S0890623814001774?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0890623814001774?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Wu, Pensée, Whiteford, Margo L., Cameron, Alan D.
المصدر: Obstetrics, Gynaecology & Reproductive Medicine ; volume 24, issue 3, page 67-73 ; ISSN 1751-7214
مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine
الإتاحة: https://doi.org/10.1016/j.ogrm.2014.01.003Test
https://api.elsevier.com/content/article/PII:S1751721414000049?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1751721414000049?httpAccept=text/plainTest
النص الكامل