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Lancet, The, ISSN 0140-6736, 2010, Volume 375, Issue 9725, pp. 1525 - 1535
Journal Article
Science, ISSN 0036-8075, 1/2010, Volume 327, Issue 5961, pp. 78 - 81
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2012, Volume 109, Issue 30, pp. 11920 - 11927
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2011, Volume 7, Issue 9, pp. e1002280 - e1002280
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2009, Volume 46, Issue 3, pp. 168 - 175
Journal Article
Human Mutation, ISSN 1059-7794, 05/2012, Volume 33, Issue 5, pp. 809 - 812
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 12/2010, Volume 3, Issue 6, pp. 574 - 580
Journal Article
Texas Heart Institute Journal, ISSN 0730-2347, 2012, Volume 39, Issue 1, pp. 71 - 75
Multiple precursor proteins have been shown to cause cardiac amyloidosis. The most common forms are due either to immuno globulin light chains or to... 
Immunoenzyme techniques | Diagnostic errors/prevention and control | Amyloid neuropathies, familial/genetics | Polyneuropathies | Transthyretin- related amyloid fibril protein, human | Cardiac/ classification/diagnosis/ physiopathology/therapy | Fluorescent antibody technique | Amyloidosis | Diflunisal | polyneuropathies | SPECIMENS | CARDIAC & CARDIOVASCULAR SYSTEMS | diagnostic errors/prevention & control | MANAGEMENT | fluorescent antibody technique | diflunisal | CLASSIFICATION | transthyretin-related amyloid fibril protein, human | amyloidosis, cardiac/classification/diagnosis/physiopathology/therapy | immunoenzyme techniques | Prealbumin - genetics | Predictive Value of Tests | Echocardiography | Myocardium - chemistry | Amyloidosis, Familial - diagnosis | Amyloidosis, Familial - genetics | Humans | Myocardium - pathology | Amyloid - chemistry | Amyloidosis, Familial - metabolism | Cardiomyopathies - therapy | Cardiomyopathies - genetics | Magnetic Resonance Imaging | Biopsy | DNA Mutational Analysis | Cardiomyopathies - metabolism | Cardiomyopathies - diagnosis | Fluorescent Antibody Technique | Amyloidosis, Familial - therapy | Female | Aged | Prealbumin - analysis | Mutation | Index Medicus | diagnostic errors | therapy | diagnosis | prevention & control | classification | Case Reports | physiopathology | genetics | Amyloid neuropathies, familial | amyloidosis, cardiac
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2011, Volume 7, Issue 9
  Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic... 
Haplotypes | Ethnicity | Genomics | Risk assessment | Genetics | Genomes | Grants | Methods | Questioning
Journal Article
by Redin, Claire and Brand, Harrison and Collins, Ryan L and Kammin, Tammy and Mitchell, Elyse and Hodge, Jennelle C and Hanscom, Carrie and Pillalamarri, Vamsee and Seabra, Catarina M and Abbott, Mary-Alice and Abdul-Rahman, Omar A and Aberg, Erika and Adley, Rhett and Alcaraz-Estrada, Sofia L and Alkuraya, Fowzan S and An, Yu and Anderson, Mary-Anne and Antolik, Caroline and Anyane-Yeboa, Kwame and Atkin, Joan F and Bartell, Tina and Bernstein, Jonathan A and Beyer, Elizabeth and Blumenthal, Ian and Bongers, Ernie M. H. F and Brilstra, Eva H and Brown, Chester W and Bruggenwirth, Hennie T and Callewaert, Bert and Chiang, Colby and Corning, Ken and Cox, Helen and Cuppen, Edwin and Currall, Benjamin B and Cushing, Tom and David, Dezso and Deardorff, Matthew A and Dheedene, Annelies and D'Hooghe, Marc and de Vries, Bert B. A and Earl, Dawn L and Ferguson, Heather L and Fisher, Heather and FitzPatrick, David R and Gerrol, Pamela and Giachino, Daniela and Glessner, Joseph T and Gliem, Troy and Grady, Margo and Graham, Brett H and Griffis, Cristin and Gripp, Karen W and Gropman, Anea L and Hanson-Kahn, Anea and Harris, David J and Hayden, Mark A and Hill, Rosamund and Hochstenbach, Ron and Hoffman, Jodi D and Hopkin, Robert J and Hubshman, Monika W and Innes, A. Micheil and Irons, Mira and Irving, Melita and Jacobsen, Jessie C and Janssens, Sana and Jewett, Tamison and Johnson, John P and Jongmans, Marjolijn C and Kahler, Stephen G and Koolen, David A and Korzelius, Jerome and Kroisel, Peter M and Lacassie, Yves and Lawless, William and Lemyre, Emmanuelle and Leppig, Kathleen and Levin, Alex V and Li, Haibo and Li, Hong and Liao, Eric C and Lim, Cynthia and Lose, Edward J and Lucente, Diane and Macera, Michael J and Manavalan, Poornima and Manile, Giorgia and Marcelis, Carlo L and Margolin, Lauren and Mason, Tamara and Masser-Frye, Diane and McClellan, Michael W and Mendoza, Cinthya J. Zepeda and Menten, Bjorn and Middelkamp, Sjors and Mikami, Liya R and Moe, Emily and Mohammed, Shehla and Mononen, Tarja and Mortenson, Megan E and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Journal Article
by Redin, Claire and Brand, Harrison and Collins, Ryan L and Kammin, Tammy and Mitchell, Elyse and Hodge, Jennelle C and Hanscom, Carrie and Pillalamarri, Vamsee and Seabra, Catarina M and Abbott, Mary-Alice and Abdul-Rahman, Omar A and Aberg, Erika and Adley, Rhett and Alcaraz-Estrada, Sofia L and Alkuraya, Fowzan S and An, Yu and Anderson, Mary-Anne and Antolik, Caroline and Anyane-Yeboa, Kwame and Atkin, Joan F and Bartell, Tina and Bernstein, Jonathan A and Beyer, Elizabeth and Blumenthal, Ian and Bongers, Ernie M H F and Brilstra, Eva H and Brown, Chester W and Brüggenwirth, Hennie T and Callewaert, Bert and Chiang, Colby and Corning, Ken and Cox, Helen and Cuppen, Edwin and Currall, Benjamin B and Cushing, Tom and David, Dezso and Deardorff, Matthew A and Dheedene, Annelies and D'Hooghe, Marc and de Vries, Bert B A and Earl, Dawn L and Ferguson, Heather L and Fisher, Heather and FitzPatrick, David R and Gerrol, Pamela and Giachino, Daniela and Glessner, Joseph T and Gliem, Troy and Grady, Margo and Graham, Brett H and Griffis, Cristin and Gripp, Karen W and Gropman, Anea L and Hanson-Kahn, Anea and Harris, David J and Hayden, Mark A and Hill, Rosamund and Hochstenbach, Ron and Hoffman, Jodi D and Hopkin, Robert J and Hubshman, Monika W and Innes, A Micheil and Irons, Mira and Irving, Melita and Jacobsen, Jessie C and Janssens, Sana and Jewett, Tamison and Johnson, John P and Jongmans, Marjolijn C and Kahler, Stephen G and Koolen, David A and Korzelius, Jerome and Kroisel, Peter M and Lacassie, Yves and Lawless, William and Lemyre, Emmanuelle and Leppig, Kathleen and Levin, Alex V and Li, Haibo and Li, Hong and Liao, Eric C and Lim, Cynthia and Lose, Edward J and Lucente, Diane and Macera, Michael J and Manavalan, Poornima and Manile, Giorgia and Marcelis, Carlo L and Margolin, Lauren and Mason, Tamara and Masser-Frye, Diane and McClellan, Michael W and Mendoza, Cinthya J Zepeda and Menten, Björn and Middelkamp, Sjors and Mikami, Liya R and Moe, Emily and Mohammed, Shehla and Mononen, Tarja and Mortenson, Megan E and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, p. 36–45
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution.... 
Journal Article