المؤلفون: Ou, Zhishuo, Stankiewicz, Pawel, Xia, Zhilian, Breman, Amy M., Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M. Lance, Rao, Mitchell, Shao, Lina, South, Sarah T., Coleman, Karlene, Fernhoff, Paul M., Deray, Marcel J., Rosengren, Sally, Roeder, Elizabeth R., Enciso, Victoria B., Chinault, A. Craig, Patel, Ankita, Kang, Sung-Hae L., Shaw, Chad A., Lupski, James R., Cheung, Sau W.

مصطلحات موضوعية: RESEARCH

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/21/1/33; http://dx.doi.org/10.1101/gr.111609.110

الاتاحة: http://genome.cshlp.org/cgi/content/short/21/1/33
https://doi.org/10.1101/gr.111609.110

المؤلفون: Moreno-De-Luca, Andres, Helmers, Sandra L, Mao, Hui, Burns, Thomas G, Melton, Amanda M A, Schmidt, Karen R, Fernhoff, Paul M, Ledbetter, David H, Martin, Christa L

مصطلحات موضوعية: Short report

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/2/141; http://dx.doi.org/10.1136/jmg.2010.082263

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/2/141
https://doi.org/10.1136/jmg.2010.082263

المؤلفون: Fernhoff, Paul M

المصدر: Clinical Chemistry ; volume 56, issue 7, page 1045-1046 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1373/clinchem.2010.147371
http://academic.oup.com/clinchem/article-pdf/56/7/1045/32652702/clinchem1045.pdf

المؤلفون: Laney, Dawn A., Fernhoff, Paul M.

المصدر: Journal of Genetic Counseling ; volume 17, issue 1, page 79-83 ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1007/s10897-007-9128-x
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-007-9128-x
https://onlinelibrary.wiley.com/doi/full-xml/10.1007/s10897-007-9128-x

المؤلفون: Brown, Amanda Savage, Fernhoff, Paul M., Waisbren, Susan E., Frazier, Dianne M., Singh, Rani, Rohr, Fran, Morris, Jill M., Kenneson, Aileen, Macdonald, Pia, Gwinn, Marta, Honein, Margaret, Rasmussen, Sonja A.

المصدر: Genetics in Medicine ; volume 4, issue 2, page 84-89 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-200203000-00006
https://api.elsevier.com/content/article/PII:S1098360021029609?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021029609?httpAccept=text/plain

المؤلفون: Wang, Sophia S., Fernhoff, Paul M., Hannon, W. Harry, Khoury, Muin J.

المصدر: Genetics in Medicine ; volume 1, issue 7, page 332-339 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-199911000-00004
https://api.elsevier.com/content/article/PII:S1098360021001507?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021001507?httpAccept=text/plain

المؤلفون: Scaglia, Fernando, Wang, Yuhuan, Singh, Rani H., Dembure, Philip P., Pasquali, Marzia, Fernhoff, Paul M., Longo, Nicola

المصدر: Genetics in Medicine ; volume 1, issue 1, page 34-39 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-199811000-00008
https://api.elsevier.com/content/article/PII:S1098360021002859?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021002859?httpAccept=text/plain

المؤلفون: Verhulst, Karien, Artiles‐Carloni, Laura, Beck, Michael, Clarke, Joe T. R., Neto, Jordao Correa, Cox, Gerald F., Fernhoff, Paul M., Guffon, Nathalie, Kong, Yuan, Martins, Ana Maria, Tylki‐Szymanska, Anna, Whitley, Chester B., Wijburg, Frits A., Wraith, Edward J., Koepper, Catherine M.

المصدر: Pharmacoepidemiology and Drug Safety ; volume 21, issue 7, page 749-752 ; ISSN 1053-8569 1099-1557

الاتاحة: http://dx.doi.org/10.1002/pds.2200
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpds.2200
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pds.2200

المؤلفون: Burton, Barbara K., Nowacka, Maria, Hennermann, Julia B., Lipson, Mark, Grange, Dorothy K., Chakrapani, Anupam, Trefz, Friedrich, Dorenbaum, Alex, Imperiale, Michael, Kim, Sun Sook, Fernhoff, Paul M.

المصدر: Molecular Genetics and Metabolism ; volume 103, issue 4, page 315-322 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2011.03.020
https://api.elsevier.com/content/article/PII:S1096719211000965?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719211000965?httpAccept=text/plain

المؤلفون: Pastores, Gregory M, Fernhoff, Paul M., Szer, Jeffrey, Petakov, Milan, Cox, Timothy M, Giraldo, Pilar, Rosenbaum, Hanna, Amato, Dominick J, Mengel, Eugen, Chertkoff, Raul, Almon-Brill, Einat, Zimran, Ari

المصدر: Molecular Genetics and Metabolism ; volume 102, issue 2, page S33 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2010.11.113
https://api.elsevier.com/content/article/PII:S1096719210005056?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719210005056?httpAccept=text/plain

المؤلفون: Laney, Dawn Alyssia, Gruskin, Daniel J., Fernhoff, Paul M., Cubells, Joseph F., Ousley, Opal Y., Hipp, Heather, Mehta, Ami J.

المصدر: Journal of Inherited Metabolic Disease ; volume 33, issue S3, page 73-81 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-009-9025-6
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-009-9025-6

المؤلفون: Hinton, Cynthia F., Ojodu, Jelili A., Fernhoff, Paul M., Rasmussen, Sonja A., Scanlon, Kelley S., Hannon, W. Harry

المصدر: The Journal of Pediatrics ; volume 157, issue 1, page 162-163 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2010.03.006
https://api.elsevier.com/content/article/PII:S0022347610002386?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347610002386?httpAccept=text/plain

المؤلفون: Verhulst, Karien, Artiles-Carloni, Laura, Beck, Michael, Clarke, Joe T. R., Neto, Jordao Correa, Cox, Gerald F., Fernhoff, Paul M., Guffon, Nathalie, Kong, Yuan, Martins, Ana Maria, Tylki-Szymanska, Anna, Whitley, Chester B., Wijburg, Frits A., Wraith, Edward J., Koepper, Catherine M.

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases

المصدر: Pharmacoepidemiology and drug safety, 21(7), 749-752. John Wiley and Sons Ltd

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::4e3653c3fd236a59a7494ed647d5dcb6
https://pure.amc.nl/en/publications/source-document-verification-in-the-mucopolysaccharidosis-type-i-registry(0d2ef292-d0c7-4624-885f-6908fc1654c2).html

المؤلفون: Fernhoff, Paul M.

المصدر: Pediatric Clinics of North America ; volume 56, issue 3, page 505-513 ; ISSN 0031-3955

الاتاحة: http://dx.doi.org/10.1016/j.pcl.2009.03.002
https://api.elsevier.com/content/article/PII:S0031395509000121?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0031395509000121?httpAccept=text/plain

المؤلفون: Shchelochkov, Oleg A., Li, Fang-Yuan, Geraghty, Michael T., Gallagher, Renata C., Van Hove, Johan L., Lichter-Konecki, Uta, Fernhoff, Paul M., Copeland, Sara, Reimschisel, Tyler, Cederbaum, Stephen, Lee, Brendan, Chinault, A. Craig, Wong, Lee-Jun

المصدر: Molecular Genetics and Metabolism ; volume 96, issue 3, page 97-105 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2008.11.167
https://api.elsevier.com/content/article/PII:S1096719208004496?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719208004496?httpAccept=text/plain

المؤلفون: Randall, Derrick R., Colobong, Karen E., Hemmelgarn, Harmony, Sinclair, Graham B., Hetty, Elly, Thomas, Anita, Bodamer, Olaf A., Volkmar, Barbara, Fernhoff, Paul M., Casey, Robin, Chan, Alicia K., Mitchell, Grant, Stockler, Silvia, Melancon, Serge, Rupar, Tony, Clarke, Lorne A.

المصدر: Molecular Genetics and Metabolism ; volume 94, issue 4, page 456-461 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2008.05.001
https://api.elsevier.com/content/article/PII:S1096719208001443?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719208001443?httpAccept=text/plain

المؤلفون: Adam, Margaret P., Justice, April N., Bean, Lora J.H., Fernhoff, Paul M.

المصدر: American Journal of Medical Genetics Part A ; volume 146A, issue 2, page 245-246 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32075
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32075
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32075

المؤلفون: Brady, April N., Shehata, Bahig M., Fernhoff, Paul M.

المصدر: Prenatal Diagnosis ; volume 26, issue 5, page 462-465 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.1438
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.1438
https://onlinelibrary.wiley.com/doi/full/10.1002/pd.1438

المؤلفون: Brady, April N., May, Kristin M., Fernhoff, Paul M.

المصدر: American Journal of Medical Genetics Part A ; volume 132A, issue 4, page 411-413 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.30339
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.30339
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.30339

المؤلفون: Fernhoff, Paul M.

المصدر: The Journal of Pediatrics ; volume 146, issue 4, page 558 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2004.12.032
https://api.elsevier.com/content/article/PII:S0022347604011989?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347604011989?httpAccept=text/plain