المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100359 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.12.006Test
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/plainTest

المؤلفون: Culver, Julie O., Bertsch, Nicole L., Kurz, Raluca N., Cheng, Linda L., Pritzlaff, Mary, Rao, Smita K., Stasi, Shannon M., Stave, Christopher D., Sharaf, Ravi N.

المساهمون: National Institutes of Health, National Society of Genetic Counselors

المصدر: Genetics in Medicine ; volume 26, issue 1, page 100980 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100980Test
https://api.elsevier.com/content/article/PII:S1098360023009966?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023009966?httpAccept=text/plainTest

المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R.

المصدر: Genetics in Medicine ; volume 23, issue 3, page 498-507 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-01005-9Test
http://www.nature.com/articles/s41436-020-01005-9.pdfTest
http://www.nature.com/articles/s41436-020-01005-9Test
https://api.elsevier.com/content/article/PII:S1098360021049455?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021049455?httpAccept=text/plainTest

المؤلفون: Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

المصدر: Paediatrics Publications

مصطلحات موضوعية: Autism spectrum disorders, Genetic testing, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/391Test; https://ir.lib.uwo.ca/context/paedpub/article/1408/viewcontent/Drivas_et_al.___2020___A_second_cohort_of_CHD3_patients_expands_the_molec.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-020-0654-4Test
https://ir.lib.uwo.ca/paedpub/391Test
https://ir.lib.uwo.ca/context/paedpub/article/1408/viewcontent/Drivas_et_al.___2020___A_second_cohort_of_CHD3_patients_expands_the_molec.pdfTest

المؤلفون: Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmuller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly A., Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., Van De Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe M., Bhoj, Elizabeth

المساهمون: Université de Lille

العلاقة: European journal of human genetics . EJHG; Eur. J. Hum. Genet.; http://hdl.handle.net/20.500.12210/55382Test

الإتاحة: https://doi.org/20.500.12210/55382Test
https://hdl.handle.net/20.500.12210/55382Test

المؤلفون: Pinto e Vairo, Filippo, Kroc, Sarah A., Bertsch, Nicole L., Sigafoos, Ashley N., Lee, Han B., Dsouza, Nikita R., Clark, Karl J., Pichurin, Pavel N., Zimmermann, Michael T., Klee, Eric W.

المساهمون: Mayo Clinic Center for Individualized Medicine, Investigative and Functional Genomics Program, William O. Lund, Jr. and Natalie C. Lund Charitable Foundation

المصدر: Thrombosis Research ; volume 195, page 187-189 ; ISSN 0049-3848

مصطلحات موضوعية: Hematology

الإتاحة: https://doi.org/10.1016/j.thromres.2020.07.014Test
https://api.elsevier.com/content/article/PII:S0049384820303054?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0049384820303054?httpAccept=text/plainTest

المؤلفون: Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton‐Smith, Jill

المساهمون: Wellcome Trust, Mayo Clinic, National Institute for Health Research, Department of Health, Australian Government

المصدر: American Journal of Medical Genetics Part A ; volume 179, issue 4, page 570-578 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.61061Test

المؤلفون: Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

المصدر: European Journal of Human Genetics: EJHG; October 2020, Vol. 28 Issue: 10 p1422-1431, 10p

المؤلفون: Culver, Julie O., Bertsch, Nicole L., Kurz, Raluca N., Cheng, Linda, Pritzlaff, Mary, Rao, Smita K., Stasi, Shannon M., Stave, Christopher D., Sharaf, Ravi N.

المصدر: Genetics in Medicine; 20230101, Issue: Preprints