المؤلفون: Hart, M. Ragan, Biesecker, Barbara B., Blout, Carrie L., Christensen, Kurt D., Amendola, Laura M., Bergstrom, Katie L., Biswas, Sawona, Bowling, Kevin M., Brothers, Kyle B., Conlin, Laura K., Cooper, Greg M., Dulik, Matthew C., East, Kelly M., Everett, Jessica N., Finnila, Candice R., Ghazani, Arezou A., Gilmore, Marian J., Goddard, Katrina A. B, Jarvik, Gail P., Johnston, Jennifer J., Kauffman, Tia L., Kelley, Whitley V., Krier, Joel B., Lewis, Katie L., McGuire, Amy L., McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E., Rehm, Heidi L., Richards, C. Sue, Romasko, Edward J., Miren Sagardia, Ane, Spinner, Nancy B., Thompson, Michelle L., Turbitt, Erin, Vassy, Jason L., Wilfond, Benjamin S., Veenstra, David L., Berg, Jonathan S., Green, Robert C., Biesecker, Leslie G., Hindorff, Lucia A.

المصدر: Genetics in Medicine ; volume 21, issue 5, page 1100-1110 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0308-xTest
http://www.nature.com/articles/s41436-018-0308-xTest
http://www.nature.com/articles/s41436-018-0308-x.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021014817?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021014817?httpAccept=text/plainTest

المؤلفون: Hart, M. Ragan, Biesecker, Barbara B., Blout, Carrie L., Christensen, Kurt D., Amendola, Laura M., Bergstrom, Katie L., Biswas, Sawona, Bowling, Kevin M., Brothers, Kyle B., Conlin, Laura K., Cooper, Greg M., Dulik, Matthew C., East, Kelly M., Everett, Jessica N., Finnila, Candice R., Ghazani, Arezou A., Gilmore, Marian J., Goddard, Katrina A.B., Jarvik, Gail P., Johnston, Jennifer J., Kauffman, Tia L., Kelley, Whitley V., Krier, Joel B., Lewis, Katie L., McGuire, Amy L., McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E., Rehm, Heidi L., Richards, C. Sue, Romasko, Edward J., Sagardia, Ane Miren, Spinner, Nancy B., Thompson, Michelle L., Turbitt, Erin, Vassy, Jason L., Wilfond, Benjamin S., Veenstra, David L., Berg, Jonathan S., Green, Robert C., Biesecker, Leslie G., Hindorff, Lucia A.

المصدر: Genetics in Medicine ; volume 21, issue 5, page 1261-1262 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-019-0440-2Test
http://www.nature.com/articles/s41436-019-0440-2.pdfTest
http://www.nature.com/articles/s41436-019-0440-2Test
https://api.elsevier.com/content/article/PII:S1098360021014945?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021014945?httpAccept=text/plainTest

المؤلفون: Stankiewicz, Paweł, Khan, Tahir N, Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A, Brown, Chester W, Rosenfeld, Jill A, Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L, Parsons, Donald W, Plon, Sharon E, Vieira, Marta W, Quaio, Caio R D C, Baratela, Wagner A R, Acosta Guio, Johanna C, Armstrong, Ruth, Mehta, Sarju G, Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M, Shinde, Deepali N, Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A, Xiao, Rui, Breman, Amy M, Smith, Janice L, Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E, Yang, Yaping

المصدر: Stankiewicz , P , Khan , T N , Szafranski , P , Slattery , L , Streff , H , Vetrini , F , Bernstein , J A , Brown , C W , Rosenfeld , J A , Rednam , S , Scollon , S , Bergstrom , K L , Parsons , D W , Plon , S E , Vieira , M W , Quaio , C R D C , Baratela , W A R , Acosta Guio , J C , Armstrong , R , Mehta , S G , Rump , P ....

مصطلحات موضوعية: COPY-NUMBER VARIANT, TRANSCRIPTION FACTOR, INTELLECTUAL DISABILITY, COMPLEX NURF, PHD FINGER, ARRAY CGH, IN-VIVO, MUTATIONS, GENE, PROTEIN

العلاقة: https://research.rug.nl/en/publications/05ff9443-bcde-4ee3-bba4-e6ed45f0038fTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.08.014Test
https://hdl.handle.net/11370/05ff9443-bcde-4ee3-bba4-e6ed45f0038fTest
https://research.rug.nl/en/publications/05ff9443-bcde-4ee3-bba4-e6ed45f0038fTest

المؤلفون: Carapito, Raphael, Konantz, Martina, Paillard, Catherine, Miao, Zhichao, Pichot, Angelique, Leduc, Magalie S., Yang, Yaping, Bergstrom, Katie L., Mahoney, Donald H., Shardy, Deborah L., Alsaleh, Ghada, Naegely, Lydie, Kolmer, Aline, Paul, Nicodeme, Hanauer, Antoine, Rolli, Veronique, Mueller, Joelle S., Alghisi, Elisa, Sauteur, Loic, Macquin, Cecile, Morlon, Aurore, Sancho, Consuelo Sebastia, Amati-Bonneau, Patrizia, Procaccio, Vincent, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Osmani, Nael, Lefebvre, Olivier, Goetz, Jacky G., Unal, Sule, Akarsu, Nurten A., Radosavljevic, Mirjana, Chenard, Marie-Pierre, Rialland, Fanny, Grain, Audrey, Bene, Marie-Christine, Eveillard, Marion, Vincent, Marie, Guy, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien, Myers, Kasiani, Fleming, Mark D., Shimamura, Akiko, Bottollier-Lemallaz, Elodie, Westhof, Eric, Lengerke, Claudia, Isidor, Bertrand, Bahram, Seiamak

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Research & Experimental Medicine

وصف الملف: text/plain

العلاقة: Journal Of Clinical Investigation; https://doi.org/10.1172/JCI92876Test; http://hdl.handle.net/11655/14189Test; 127; 11; 4090; 4103

الإتاحة: https://doi.org/10.1172/JCI92876Test
http://hdl.handle.net/11655/14189Test

المؤلفون: Mahajan, Priya, Bergstrom, Katie L., Phung, Thuy L., Metry, Denise W.

المصدر: Clinics in Dermatology ; volume 40, issue 4, page 313-321 ; ISSN 0738-081X

مصطلحات موضوعية: Dermatology

الإتاحة: https://doi.org/10.1016/j.clindermatol.2022.02.006Test
https://api.elsevier.com/content/article/PII:S0738081X22000219?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0738081X22000219?httpAccept=text/plainTest

المؤلفون: Gutierrez, Amanda M., Statham, Emily E., Robinson, Jill O., Slashinski, Melody J., Scollon, Sarah, Bergstrom, Katie L., Street, Richard L., Parsons, D. Williams, Plon, Sharon E., McGuire, Amy L.

المساهمون: National Human Genome Research Institute, National Cancer Institute

المصدر: Patient Education and Counseling ; volume 102, issue 5, page 895-901 ; ISSN 0738-3991

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.pec.2018.12.012Test
https://api.elsevier.com/content/article/PII:S0738399118310164?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0738399118310164?httpAccept=text/plainTest

المؤلفون: Gutierrez, Amanda M., Statham, Emily E., Robinson, Jill O., Slashinski, Melody J., Scollon, Sarah, Bergstrom, Katie L., Street, Richard L., Parsons, D. Williams, Plon, Sharon E., McGuire, Amy L.

مصطلحات موضوعية: Article, lang, anthro-se

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197396Test/

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197396Test/

المؤلفون: Gutierrez, Amanda M, Robinson, Jill O, Statham, Emily E, Scollon, Sarah, Bergstrom, Katie L, Slashinski, Melody J, Parsons, Donald W, Plon, Sharon E, McGuire, Amy L, Street, Richard L

المصدر: Personalized Medicine ; volume 14, issue 6, page 503-514 ; ISSN 1741-0541 1744-828X

الإتاحة: https://doi.org/10.2217/pme-2017-0040Test