المؤلفون: Duffner, Patricia K., Jackson, Lisa A., Cohen, Michael E.

المصدر: Pediatric Behavioral Neurology ; page 289-308 ; ISBN 9781003574088

الاتاحة: http://dx.doi.org/10.1201/9781003574088-12

المؤلفون: Orsini, Joseph J, Kay, Denise M, Saavedra-Matiz, Carlos A, Wenger, David A, Duffner, Patricia K, Erbe, Richard W, Biski, Chad, Martin, Monica, Krein, Lea M, Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L, Adams, Darius J, Arnold, Georgianne L, Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F, Kwon, Jennifer M, Levy, Paul A, Pellegrino, Joan E, Shur, Natasha, Wasserstein, Melissa P, Caggana, Michele, New York State Krabbe Disease Consortium

مصطلحات موضوعية: New York State Krabbe Disease Consortium, Humans, Leukodystrophy, Globoid Cell, Galactosylceramidase, Neonatal Screening, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Predictive Value of Tests, Polymorphism, Single Nucleotide, Algorithms, Infant, Newborn, New York, Mass Spectrometry, Dried Blood Spot Testing

وصف الملف: application/pdf

Relation: Genetics in medicine : official journal of the American College of Medical Genetics; S1098-3600(21)04320-3; https://hdl.handle.net/10161/24634

الاتاحة: https://hdl.handle.net/10161/24634

المؤلفون: Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele

المصدر: Genetics in Medicine ; volume 18, issue 3, page 239-248 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2015.211
http://www.nature.com/articles/gim2015211.pdf
http://www.nature.com/articles/gim2015211
https://api.elsevier.com/content/article/PII:S1098360021043203?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021043203?httpAccept=text/plain

المؤلفون: Foss, Alexander H., Duffner, Patricia K., Carter, Randy L.

المصدر: Rare Diseases ; volume 1, issue 1, page e25212 ; ISSN 2167-5511

الاتاحة: http://dx.doi.org/10.4161/rdis.25212
http://www.tandfonline.com/doi/pdf/10.4161/rdis.25212

المؤلفون: Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 38 (2012)

مصطلحات موضوعية: Krabbe disease, GALC, Deletion, Duplication, Array CGH, Medicine

Relation: http://www.ojrd.com/content/7/1/38; https://doaj.org/toc/1750-1172; https://doaj.org/article/40fa14ffefcc47829b7e10a472ae4c3c

الاتاحة: https://doi.org/10.1186/1750-1172-7-38
https://doaj.org/article/40fa14ffefcc47829b7e10a472ae4c3c

المؤلفون: Duffner, Patricia K., Caviness, Verne S., Erbe, Richard W., Patterson, Marc C., Schultz, Kirk R., Wenger, David A., Whitley, Chester

المصدر: Genetics in Medicine ; volume 11, issue 6, page 450-454 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/gim.0b013e3181a16e04
https://api.elsevier.com/content/article/PII:S1098360021029427?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021029427?httpAccept=text/plain

المؤلفون: Weinstock, Arie, Giglio, Pierre, Kerr, Susan L., Duffner, Patricia K., Cohen, Michael E.

المصدر: Journal of Child Neurology ; volume 18, issue 8, page 517-524 ; ISSN 0883-0738 1708-8283

الاتاحة: https://doi.org/10.1177/08830738030180080801
https://journals.sagepub.com/doi/pdf/10.1177/08830738030180080801

المؤلفون: Tanner, Alice K, Chin, Ephrem L H, Duffner, Patricia K, Hegde, Madhuri

مصطلحات موضوعية: Krabbe disease, GALC, Deletion, Duplication, Array CGH

Relation: http://www.ojrd.com/content/7/1/38

الاتاحة: http://www.ojrd.com/content/7/1/38

المؤلفون: Brown, Henry G., Kepner, James L., Perlman, Elizabeth J., Friedman, Henry S., Strother, Douglas R., Duffner, Patricia K., Kun, Larry E., Goldthwaite, Patricia T., Burger, Peter C.

مصطلحات موضوعية: Articles

وصف الملف: text/html

Relation: http://jnen.oxfordjournals.org/cgi/content/short/59/10/857; http://dx.doi.org/10.1093/jnen/59.10.857

الاتاحة: http://jnen.oxfordjournals.org/cgi/content/short/59/10/857
https://doi.org/10.1093/jnen/59.10.857

المؤلفون: Mahoney, Donald H., Cohen, Michael E., Friedman, Henry S., Kepner, James L., Gemer, Linda, Langston, James W., James, Hector E., Duffner, Patricia K., Kun, Larry E.

مصطلحات موضوعية: Pediatric Neuro-Oncology

وصف الملف: text/html

Relation: http://neuro-oncology.oxfordjournals.org/cgi/content/short/2/4/213; http://dx.doi.org/10.1093/neuonc/2.4.213

الاتاحة: http://neuro-oncology.oxfordjournals.org/cgi/content/short/2/4/213
https://doi.org/10.1093/neuonc/2.4.213

المؤلفون: Duffner, Patricia K., Horowitz, Marc E., Krischer, Jeffrey P., Burger, Peter C., Cohen, Michael E., Sanford, Robert A., Friedman, Henry S., Kun, Larry E., the Pediatric Oncology Group (POG)

مصطلحات موضوعية: Symposium Childhood Brian Tumors

وصف الملف: text/html

Relation: http://neuro-oncology.oxfordjournals.org/cgi/content/short/1/2/152; http://dx.doi.org/10.1093/neuonc/1.2.152

الاتاحة: http://neuro-oncology.oxfordjournals.org/cgi/content/short/1/2/152
https://doi.org/10.1093/neuonc/1.2.152

المؤلفون: Comi, Anne M., Backstrom, James W., Burger, Peter C., Duffner, Patricia K.

المصدر: Pediatric Neurology ; volume 18, issue 1, page 23-29 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/s0887-8994(97)00162-8
https://api.elsevier.com/content/article/PII:S0887899497001628?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899497001628?httpAccept=text/plain

المؤلفون: Abrey, Lauren E., Acker, Till, Amundson, Eric, Asadi-Moghaddam, Kaveh, Berens, Michael E., Brem, Henry, Broaddus, William C., Butturini, Anna, Butowski, Nicholas, Carabasi, Matthew, Chamberlain, Marc C., Chang, Susan, Chen, Mike Yue, Chen, Zhi-jian, Chiocca, Antonio E., Demuth, Tim, Doolittle, Nancy D., Dorsi, Michael, Duffner, Patricia K., Kamar, Francois G. El, Engelhard, Herbert H., Fahey, Christopher, Finlay, Jonathan L., Fink, Karen L., Fitzpatrick, Lorna K., Gillies, George T., Guha, Abhijit, Haar, Peter J., Haas-Kogan, Daphne A., Haque, Raqeeb M., Ivanchuk, Stacey M., Jennings, Mark T., Malkin, Mark G., Mikkelsen, Tom, Mohile, Nimish, Mukherjee, Joydeep, Murillo, Tulio P., Nakamura, Jean L., Neuwelt, Edward A., Newton, Herbert B., Paleologos, Nina A., Plate, Karl H., Pollack, Ian F., Pomeroy, Scott L., Raizer, Jeffrey J., Ray-Chaudhury, Abhik, Rempel, Sandra A., Rutka, James T., Scheck, Adrienne C., Steinbach, Joachim P.

المصدر: Handbook of Brain Tumor Chemotherapy ; page xv-xvi ; ISBN 9780120884100

الاتاحة: http://dx.doi.org/10.1016/b978-012088410-0/50038-x
https://api.elsevier.com/content/article/PII:B978012088410050038X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B978012088410050038X?httpAccept=text/plain

المؤلفون: Duffner, Patricia K., Armstrong, Floyd Daniel, Chen, Lu, Helton, Kathleen J., Brecher, Martin L., Bell, Beverly, Chauvenet, Allen R.

المصدر: Journal of Pediatric Hematology/Oncology ; volume 36, issue 1, page 8-15 ; ISSN 1077-4114

الاتاحة: http://dx.doi.org/10.1097/mph.0000000000000000
https://journals.lww.com/10.1097/MPH.0000000000000000

المؤلفون: Duffner, Patricia K., Armstrong, Floyd Daniel, Helton, Kathleen, Brecher, Martin L., Bell, Beverly, Chauvenet, Allen R.

المصدر: Journal of Pediatric Hematology/Oncology ; volume 36, issue 6, page 501-502 ; ISSN 1077-4114

الاتاحة: http://dx.doi.org/10.1097/mph.0000000000000145
https://journals.lww.com/10.1097/MPH.0000000000000145

المؤلفون: Abdelhalim, Ahmed N., Alberico, Ronald A., Barczykowski, Amy L., Duffner, Patricia K.

المصدر: Pediatric Neurology ; volume 50, issue 2, page 127-134 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2013.10.001
https://api.elsevier.com/content/article/PII:S0887899413006115?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899413006115?httpAccept=text/plain

المؤلفون: Duffner, Patricia K., Granger, Carl, Lyon, Nancy, Niewczyk, Paulette, Barczykowski, Amy, Bauer, Sarah, Msall, Michael E.

المصدر: Articles & Book Chapters

Relation: https://digitalcommons.daemen.edu/faculty_scholar/322; https://doi.org/10.1016/j.jpeds.2012.01.044

الاتاحة: https://digitalcommons.daemen.edu/faculty_scholar/322
https://doi.org/10.1016/j.jpeds.2012.01.044

المؤلفون: Barczykowski, Amy L., Foss, Alexander H., Duffner, Patricia K., Yan, Li, Carter, Randy L.

المصدر: American Journal of Medical Genetics Part A ; volume 158A, issue 11, page 2835-2842 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.35624
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.35624
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35624

المؤلفون: Jalal, Kabir, Carter, Randy, Yan, Li, Barczykowski, Amy, Duffner, Patricia K.

المساهمون: United States Department of Health and Human Services, Health Resources and Service Administration, Hunter’s Hope Foundation

المصدر: Pediatric Neurology ; volume 47, issue 5, page 324-329 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.003
https://api.elsevier.com/content/article/PII:S0887899412003529?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899412003529?httpAccept=text/plain

المؤلفون: Duffner, Patricia K., Barczykowski, Amy, Jalal, Kabir, Yan, Li, Kay, Denise M., Carter, Randy L.

المصدر: Pediatric Neurology ; volume 45, issue 3, page 141-148 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.007
https://api.elsevier.com/content/article/PII:S0887899411002116?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899411002116?httpAccept=text/plain