المؤلفون: Kugler, Emmalee M., Patel, Akash, Afridi, Faraz, Scarano, Maria I., Ahmed, Rafat

المصدر: Pediatric Hematology Oncology Journal ; ISSN 2468-1245

مصطلحات موضوعية: Oncology, Hematology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.phoj.2024.04.002Test
https://api.elsevier.com/content/article/PII:S2468124524000330?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468124524000330?httpAccept=text/plainTest

المؤلفون: Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

المصدر: Genetics in Medicine ; volume 23, issue 9, page 1624-1635 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01182-1Test
https://www.nature.com/articles/s41436-021-01182-1.pdfTest
https://www.nature.com/articles/s41436-021-01182-1Test
https://api.elsevier.com/content/article/PII:S1098360021050899?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021050899?httpAccept=text/plainTest

المؤلفون: Sajan, Samin A, Ganesh, Jaya, Shinde, Deepali N, Powis, Zöe, Scarano, Maria I, Stone, Jennifer, Winter, Susan, Tang, Sha

مصطلحات موضوعية: Novel disease loci

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/56/12/850Test; http://dx.doi.org/10.1136/jmedgenet-2018-105639Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105639Test
http://jmg.bmj.com/cgi/content/short/56/12/850Test

المؤلفون: Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.

المصدر: Genetics in Medicine ; volume 20, issue 12, page 1663-1676 ; ISSN 1098-3600

الإتاحة: https://doi.org/10.1038/s41436-018-0004-xTest
http://www.nature.com/articles/s41436-018-0004-xTest
http://www.nature.com/articles/s41436-018-0004-x.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021000022?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021000022?httpAccept=text/plainTest

المؤلفون: Romasko, Edward J., Devkota, Batsal, Biswas, Sawona, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Dulik, Matthew C., Thom, Christopher S., Choi, Jiwon, Jairam, Sowmya, Scarano, Maria I., Krantz, Ian D., Spinner, Nancy B., Conlin, Laura K., Lambert, Michele P.

المساهمون: National Human Genome Research Institute

المصدر: American Journal of Hematology ; volume 93, issue 1, page 8-16 ; ISSN 0361-8609 1096-8652

الإتاحة: https://doi.org/10.1002/ajh.24917Test

المؤلفون: Adutwum, Michelle, Hurst, Anna, Mirzaa, Ghayda, Kushner, Jessica D., Rogers, Caleb, Khalek, Nahla, Cristancho, Ana G., Burrill, Natalie, Seifert, Michael E., Scarano, Maria I., Schnur, Rhonda E., Slavotinek, Anne

المصدر: Clinical Genetics ; volume 103, issue 1, page 97-102 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14222Test

المؤلفون: Adutwum, Michelle, Hurst, Anna, Mirzaa, Ghayda, Kushner, Jessica D., Rogers, Caleb, Khalek, Nahla, Cristancho, Ana G., Burrill, Natalie, Seifert, Michael E., Scarano, Maria I., Schnur, Rhonda E., Slavotinek, Anne

المصدر: Clinical Genetics; Jan2023, Vol. 103 Issue 1, p97-102, 6p

مصطلحات موضوعية: NEPHROTIC syndrome, SCIMITAR syndrome, SYNDROMES, CENTRAL nervous system, KIDNEY diseases, AMNIOTIC liquid, AMNIOTIC fluid embolism

المؤلفون: Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.

المساهمون: National Human Genome Research Institute, National Institute of General Medical Sciences

المصدر: Human Genomics ; volume 9, issue 1 ; ISSN 1479-7364

مصطلحات موضوعية: Drug Discovery, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s40246-015-0038-yTest

المؤلفون: Schnur, Rhonda E, Yousaf, Sairah, Liu, James, Chung, Wendy K, Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M, Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J, Pichurin, Pavel N, Olson, Rory J, Graham, Gail E, Osmond, Matthew, Contreras-García, Gustavo A, Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A, Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J Guillen, Wentzensen, Ingrid M, Scarano, Maria I, Juusola, Jane, Prada, Carlos E, Hufnagel, Robert B

المصدر: Pediatrics Research and Scholarship

مصطلحات موضوعية: Abnormalities, Multiple, Animals, Ectodermal Dysplasia, Humans, Limb Deformities, Congenital, Ubiquitin-Activating Enzymes, Zebrafish

وصف الملف: application/pdf

العلاقة: https://digitalrepository.unm.edu/peds_pubs/554Test; https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubsTest

الإتاحة: https://digitalrepository.unm.edu/peds_pubs/554Test
https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubsTest

المؤلفون: Marziliano, Nicola, Orrù, Valeria, Secci, Tanuccia, Uras, Sara, Reverberi, Claudio, Fiscella, Antonio, Fiscella, Damiana, Merlini, Pier A, Scarano, Maria I, Intrieri, Mariano

المساهمون: Marziliano, Nicola, Orrù, Valeria, Secci, Tanuccia, Uras, Sara, Reverberi, Claudio, Fiscella, Antonio, Fiscella, Damiana, Merlini, Pier A, Scarano, Maria I, Intrieri, Mariano

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000507479700021; volume:59; issue:12; firstpage:2084; lastpage:2085; numberofpages:2; journal:JOURNAL OF SPORTS MEDICINE AND PHYSICAL FITNESS; https://hdl.handle.net/11695/113250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077797289

الإتاحة: https://doi.org/10.23736/S0022-4707.19.09882-7Test
https://hdl.handle.net/11695/113250Test