المؤلفون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

المساهمون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, Ladonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Areli, Mahoney, Maurice J., Maystadt, Isabelle, Mcdougall, Carey, Mcentagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

مصطلحات موضوعية: codons 844-848, CSRD, genotype-phenotype correlation, missense mutation, MPNST, neurofibromatosis type 1, NF1, plexiform neurofibroma, spinal NF, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29290338; info:eu-repo/semantics/altIdentifier/wos/WOS:000419305500006; volume:102; issue:1; firstpage:69; lastpage:87; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3264121Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040561423; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://hdl.handle.net/11577/3264121Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

المؤلفون: Priestley, Jessica R.C., Deshwar, Ashish R., Murthy, Harsha, D’Agostino, Maria D., Dupuis, Lucie, Gangaram, Balram, Gray, Christopher, Jobling, Rebekah, Pannia, Emanuela, Platzer, Konrad, Prescott, Katrina, Redman, Melody, Rippert, Alyssa L., Rosenfeld, Jill A., Scott, Daryl A., Wang, Yi W., Schmederer, Zelia, Dalal, Ashwin, Sarma, Asodu S., Skraban, Cara, Dowling, James J., Mendoza-Londono, Roberto, Slavotinek, Anne, Bhoj, Elizabeth J.

المساهمون: National Institute of Child Health and Human Development, National Institutes of Health

المصدر: Genetics in Medicine ; volume 25, issue 8, page 100863 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100863Test
https://api.elsevier.com/content/article/PII:S1098360023008766?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023008766?httpAccept=text/plainTest

المؤلفون: Bah, Ismaël, Fahiminiya, Somayyeh, Bégin, Louis R, Hamel, Nancy, D'Agostino, Maria D, Tanguay, Simon, Foulkes, William D

المساهمون: Canadian Institute of Health Research

المصدر: The Journal of Pathology: Clinical Research ; volume 4, issue 3, page 167-174 ; ISSN 2056-4538 2056-4538

الإتاحة: https://doi.org/10.1002/cjp2.104Test

المؤلفون: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA ( host institution ), Koczkowska, Magdalena ( author ), Chen, Yunjia ( author ), Callens, Tom ( author ), Gomes, Alicia ( author ), Sharp, Angela ( author ), Johnson, Sherrell ( author ), Hsiao, Meng-Chang ( author ), Chen, Zhenbin ( author ), Balasubramanian, Meena ( author ), Barnett, Christopher P. ( author ), Becker, Troy A. ( author ), Ben-Shachar, Shay ( author ), Bertola, Debora R. ( author ), Blakeley, Jaishri O. ( author ), Burkitt-Wright, Emma M.M. ( author ), Callaway, Alison ( author ), Crenshaw, Melissa ( author ), Cunha, Karin S. ( author ), Cunningham, Mitch ( author ), D’Agostino, Maria D. ( author ), Dahan, Karin ( author ), De Luca, Alessandro ( author ), Destrée, Anne ( author ), Dhamija, Radhika ( author ), Eoli, Marica ( author ), Evans, D. Gareth R. ( author ), Galvin-Parton, Patricia ( author ), George-Abraham, Jaya K. ( author ), Gripp, Karen W. ( author ), Guevara-Campos, Jose ( author ), Hanchard, Neil A. ( author ), Hernández-Chico, Concepcion ( author ), Immken, LaDonna ( author ), Janssens, Sandra ( author ), Jones, Kristi J. ( author ), Keena, Beth A. ( author ), Kochhar, Aaina ( author ), Liebelt, Jan ( author ), Martir-Negron, Arelis ( author ), Mahoney, Maurice J. ( author ), Maystadt, Isabelle ( author ), McDougall, Carey ( author ), McEntagart, Meriel ( author ), Mendelsohn, Nancy ( author ), Miller, David T. ( author ), Mortier, Geert ( author ), Morton, Jenny ( author ), Pappas, John ( author ), Plotkin, Scott R. ( author ), Pond, Dinel ( author ), Rosenbaum, Kenneth ( author ), Rubin, Karol ( author ), Russell, Laura ( author ), Rutledge, Lane S. ( author ), Saletti, Veronica ( author ), Schonberg, Rhonda ( author ), Schreiber, Allison ( author ), Seidel, Meredith ( author ), Siqveland, Elizabeth ( author ), Stockton, David W. ( author ), Trevisson, Eva ( author ), Ullrich, Nicole J. ( author ), Upadhyaya, Meena ( author ), van Minkelen, Rick ( author ), Verhelst, Helene ( author ), Wallace, Margaret R. ( UF author ), Yap, Yoon-Sim ( author ), Zackai, Elaine ( author ), Zonana, Jonathan ( author ), Zurcher, Vickie ( author ), Claes, Kathleen ( author ), Martin, Yolanda ( author ), Korf, Bruce R. ( author ), Legius, Eric ( author ), Messiaen, Ludwine M. ( author )

مصطلحات موضوعية: neurofibromatosis type 1, NF1, genotype-phenotype correlation, missense mutation, codons 844–848, spinal NF, MPNST, plexiform neurofibroma, CSRD

وصف الملف: Pages

العلاقة: The American Journal of Human Genetics; S0002929717304901; http://ufdc.ufl.edu/LS00593248/00001Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://ufdc.ufl.edu/LS00593248/00001Test

المؤلفون: Shuvalov, Agostino Maria, d. 1859.

مصطلحات موضوعية: Catholic converts

وصف الملف: bib

العلاقة: http://hdl.handle.net/2027/njp.32101063700429Test

الإتاحة: http://hdl.handle.net/2027/njp.32101063700429Test