المؤلفون: Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, Francois-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly N., Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W., Biesecker, Leslie G., Giurgea, Irina, Black, Graeme

المساهمون: Department of Pediatrics

المصدر: European journal of human genetics : EJHG ; 17 ; 10 ; 1325-35

مصطلحات موضوعية: Adolescent, Adult, Aged, Alleles, Animals, Child, Preschool, Cohort Studies, Eye Abnormalities, Female, Genetic Diseases, X-Linked, Heart Diseases, Humans, Infant, Newborn, Male, Mental Retardation, Microphthalmos, Middle Aged, Proto-Oncogene Proteins, Repressor Proteins, Syndrome, Genetics and Genomics, Medical Genetics, Pediatrics

العلاقة: Link to Article in PubMed; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826145/pdf/ejhg200952a.pdfTest; Eur J Hum Genet. 2009 Oct;17(10):1325-35. Epub 2009 Apr 15. Link to article on publisher's site; 1018-4813 (Linking); http://hdl.handle.net/20.500.14038/43278Test; https://escholarship.umassmed.edu/peds_genetics/23Test; 2742443; peds_genetics/23

الإتاحة: https://doi.org/10.1038/ejhg.2009.52Test
https://doi.org/20.500.14038/43278Test
https://hdl.handle.net/20.500.14038/43278Test
https://escholarship.umassmed.edu/peds_genetics/23Test

المؤلفون: Mirzaa, Ghayda M., Conti, Valerio, Timms, Andrew E., Smyser, Christopher D., Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B., Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B., Guerrini, Renzo

العلاقة: https://zenodo.org/record/889954Test; https://doi.org/10.1016/s1474-4422Test(15)00278-1; oai:zenodo.org:889954

الإتاحة: https://doi.org/10.1016/s1474-4422Test(15)00278-1
https://zenodo.org/record/889954Test

المؤلفون: Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

المصدر: European Journal of Human Genetics ; volume 17, issue 10, page 1325-1335 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2009.52Test
http://www.nature.com/articles/ejhg200952.pdfTest
http://www.nature.com/articles/ejhg200952Test

المؤلفون: Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta

المصدر: The American Journal of Human Genetics ; volume 77, issue 6, page 1117-1128 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/498695Test
https://api.elsevier.com/content/article/PII:S0002929707633953?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707633953?httpAccept=text/plainTest

المؤلفون: SHAFFER, LISA G., MCCASKILL, CHRISTOPHER, EGLI, CATHERINE A., BAKER, JOHN C., JOHNSTON, KATHREEN M.

المصدر: The American Journal of Human Genetics ; volume 61, issue 2, page 461-462 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/s0002-9297Test(07)64076-2
https://api.elsevier.com/content/article/PII:S0002929707640762?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707640762?httpAccept=text/plainTest

المؤلفون: Ndika, Joseph D.T., Johnston, Kathreen, Barkovich, James A., Wirt, Michael D., O'Neill, Patricia, Betsalel, Ofir T., Jakobs, Cornelis, Salomons, Gajja S.

المصدر: Molecular Genetics and Metabolism ; volume 106, issue 1, page 48-54 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.01.017Test
https://api.elsevier.com/content/article/PII:S1096719212000212?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719212000212?httpAccept=text/plainTest

المؤلفون: Wang, Tung‐Ho, Johnston, Kathreen, Hsieh, Chih‐Lin, Dennery, Phyllis A.

المصدر: American Journal of Medical Genetics ; volume 49, issue 4, page 399-401 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320490410Test

المؤلفون: Johnston, Kathreen, Aarons, Ralph, Schelley, Susan, Horoupian, Dikran

المصدر: American Journal of Medical Genetics ; volume 47, issue 2, page 246-249 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320470220Test

المؤلفون: Chang, Yuan, Twiss, Jeffery L., Horoupian, Dikran S., Caldwell, Sherrie A., Johnston, Kathreen M.

المصدر: Acta Neuropathologica ; volume 86, issue 4, page 399-404 ; ISSN 0001-6322 1432-0533

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1007/bf00369455Test

المؤلفون: Welsh, Kathleen M., Smoller, Bruce R., Holbrook, Karen A., Johnston, Kathreen

المصدر: Archives of Dermatology; February 1992, Vol. 128 Issue: 2 p228-231, 4p