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2012, Oxford bibliographies. Cinema and media studies, ISBN 0199791287
Web Resource
Journal Article
Radiologic Clinics of North America, ISSN 0033-8389, 01/2018, Volume 56, Issue 1, pp. 63 - 76
Journal Article
The American Journal of Cardiology, ISSN 0002-9149, 10/2018, Volume 122, Issue 8, pp. 1437 - 1442
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, p. 1139
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1139 - 1157
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
To undertake the first end-to-end cost-effectiveness analysis of exome sequencing (ES) in rare disease diagnosis. A cohort of 80 infants who underwent ES and... 
QALY | cost-effectiveness | exome sequencing | ICER
Journal Article
by Scelo, Ghislaine and Purdue, Mark P and Brown, Kevin M and Johansson, Mattias and Wang, Zhaoming and Eckel-Passow, Jeanette E and Ye, Yuanqing and Hofmann, Jonathan N and Choi, Jiyeon and Foll, Matthieu and Gaborieau, Valerie and Machiela, Mitchell J and Colli, Leandro M and Li, Peng and Sampson, Joshua N and Abedi-Ardekani, Behnoush and Besse, Celine and Blanche, Helene and Boland, Anne and Burdette, Laurie and Chabrier, Amelie and Durand, Geoffroy and Le Calvez-Kelm, Florence and Prokhortchouk, Egor and Robinot, Nivonirina and Skryabin, Konstantin G and Wozniak, Magdalena B and Yeager, Meredith and Basta-Jovanovic, Gordana and Dzamic, Zoran and Foretova, Lenka and Holcatova, Ivana and Janout, Vladimir and Mates, Dana and Mukeriya, Anush and Rascu, Stefan and Zaridze, David and Bencko, Vladimir and Cybulski, Cezary and Fabianova, Eleonora and Jinga, Viorel and Lissowska, Jolanta and Lubinski, Jan and Navratilova, Marie and Rudnai, Peter and Szeszenia-Dabrowska, Neonila and Benhamou, Simone and Cancel-Tassin, Geraldine and Cussenot, Olivier and Baglietto, Laura and Boeing, Heiner and Khaw, Kay-Tee and Weiderpass, Elisabete and Ljungberg, Borje and Sitaram, Raviprakash T and Bruinsma, Fiona and Jordan, Susan J and Severi, Gianluca and Winship, Ingrid and Hveem, Kristian and Vatten, Lars J and Fletcher, Tony and Koppova, Kvetoslava and Larsson, Susanna C and Wolk, Alicja and Banks, Rosamonde E and Selby, Peter J and Easton, Douglas F and Pharoah, Paul and Andreotti, Gabriella and Freeman, Laura E Beane and Koutros, Stella and Albanes, Demetrius and Männistö, Satu and Weinstein, Stephanie and Clark, Peter E and Edwards, Todd L and Lipworth, Loren and Gapstur, Susan M and Stevens, Victoria L and Carol, Hallie and Freedman, Matthew L and Pomerantz, Mark M and Cho, Eunyoung and Kraft, Peter and Preston, Mark A and Wilson, Kathryn M and Michael Gaziano, J and Sesso, Howard D and Black, Amanda and Freedman, Neal D and Huang, Wen-Yi and Anema, John G and Kahnoski, Richard J and Lane, Brian R and Noyes, Sabrina L and Petillo, David and Teh, Bin Tean and Peters, Ulrike and White, Emily and ...
Nature communications, 06/2017, Volume 8, p. 15724
Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of... 
Journal Article
by Scelo, Ghislaine and Purdue, Mark P and Brown, Kevin M and Johansson, Mattias and Wang, Zhaoming and Eckel-Passow, Jeanette E and Ye, Yuanqing and Hofmann, Jonathan N and Choi, Jiyeon and Foll, Matthieu and Gaborieau, Valerie and Machiela, Mitchell J and Colli, Leandro M and Li, Peng and Sampson, Joshua N and Abedi-Ardekani, Behnoush and Besse, Celine and Blanche, Helene and Boland, Anne and Burdette, Laurie and Chabrier, Amelie and Durand, Geoffroy and Le Calvez-Kelm, Florence and Prokhortchouk, Egor and Robinot, Nivonirina and Skryabin, Konstantin G and Wozniak, Magdalena B and Yeager, Meredith and Basta-Jovanovic, Gordana and Dzamic, Zoran and Foretova, Lenka and Holcatova, Ivana and Janout, Vladimir and Mates, Dana and Mukeriya, Anush and Rascu, Stefan and Zaridze, David and Bencko, Vladimir and Cybulski, Cezary and Fabianova, Eleonora and Jinga, Viorel and Lissowska, Jolanta and Lubinski, Jan and Navratilova, Marie and Rudnai, Peter and Szeszenia-Dabrowska, Neonila and Benhamou, Simone and Cancel-Tassin, Geraldine and Cussenot, Olivier and Baglietto, Laura and Boeing, Heiner and Khaw, Kay-Tee and Weiderpass, Elisabete and Ljungberg, Borje and Sitaram, Raviprakash T and Bruinsma, Fiona and Jordan, Susan J and Severi, Gianluca and Winship, Ingrid and Hveem, Kristian and Vatten, Lars J and Fletcher, Tony and Koppova, Kvetoslava and Larsson, Susanna C and Wolk, Alicja and Banks, Rosamonde E and Selby, Peter J and Easton, Douglas F and Pharoah, Paul and Andreotti, Gabriella and Freeman, Laura E Beane and Koutros, Stella and Albanes, Demetrius and Männistö, Satu and Weinstein, Stephanie and Clark, Peter E and Edwards, Todd L and Lipworth, Loren and Gapstur, Susan M and Stevens, Victoria L and Carol, Hallie and Freedman, Matthew L and Pomerantz, Mark M and Cho, Eunyoung and Kraft, Peter and Preston, Mark A and Wilson, Kathryn M and Michael Gaziano, J and Sesso, Howard D and Black, Amanda and Freedman, Neal D and Huang, Wen-Yi and Anema, John G and Kahnoski, Richard J and Lane, Brian R and Noyes, Sabrina L and Petillo, David and Teh, Bin Tean and Peters, Ulrike and White, Emily and ... and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature Communications, ISSN 2041-1723, 2017, Volume 8
Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of... 
Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
by Machiela, Mitchell J and Hofmann, Jonathan N and Carreras-Torres, Robert and Brown, Kevin M and Johansson, Mattias and Wang, Zhaoming and Foll, Matthieu and Li, Peng and Rothman, Nathaniel and Savage, Sharon A and Gaborieau, Valerie and McKay, James D and Ye, Yuanqing and Henrion, Marc and Bruinsma, Fiona and Jordan, Susan and Severi, Gianluca and Hveem, Kristian and Vatten, Lars J and Fletcher, Tony and Koppova, Kvetoslava and Larsson, Susanna C and Wolk, Alicja and Banks, Rosamonde E and Selby, Peter J and Easton, Douglas F and Pharoah, Paul and Andreotti, Gabriella and Freeman, Laura E Beane and Koutros, Stella and Albanes, Demetrius and Mannisto, Satu and Weinstein, Stephanie and Clark, Peter E and Edwards, Todd E and Lipworth, Loren and Gapstur, Susan M and Stevens, Victoria L and Carol, Hallie and Freedman, Matthew L and Pomerantz, Mark M and Cho, Eunyoung and Kraft, Peter and Preston, Mark A and Wilson, Kathryn M and Gaziano, J Michael and Sesso, Howard S and Black, Amanda and Freedman, Neal D and Huang, Wen-Yi and Anema, John G and Kahnoski, Richard J and Lane, Brian R and Noyes, Sabrina L and Petillo, David and Colli, Leandro M and Sampson, Joshua N and Besse, Celine and Blanche, Helene and Boland, Anne and Burdette, Laurie and Prokhortchouk, Egor and Skryabin, Konstantin G and Yeager, Meredith and Mijuskovic, Mirjana and Ognjanovic, Miodrag and Foretova, Lenka and Holcatova, Ivana and Janout, Vladimir and Mates, Dana and Mukeriya, Anush and Rascu, Stefan and Zaridze, David and Bencko, Vladimir and Cybulski, Cezary and Fabianova, Eleonora and Jinga, Viorel and Lissowska, Jolanta and Lubinski, Jan and Navratilova, Marie and Rudnai, Peter and Szeszenia-Dabrowska, Neonila and Benhamou, Simone and Cancel-Tassin, Geraldine and Cussenot, Olivier and Bueno-de-Mesquita, H B As and Canzian, Federico and Duell, Eric J and Ljungberg, Börje and Sitaram, Raviprakash T and Peters, Ulrike and White, Emily and Anderson, Garnet L and Johnson, Lisa and Luo, Juhua and Buring, Julie and Lee, I-Min and Chow, Wong-Ho and Moore, Lee E and Wood, Christopher and ... and