Zobrazeno 1 - 10
of 49
pro vyhledávání: '"P. Suzanne Hart"'
Publikováno v:
Case Reports in Dentistry, Vol 2014 (2014)
Externí odkaz:
https://doaj.org/article/795281e3fc904ca19034f56022bf2992
Autor:
Suzanne Hart, Maximilian Muenke
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 1-2 (2014)
Externí odkaz:
https://doaj.org/article/a1ebcfe94a964b1596c09ba2d11d1339
Publikováno v:
Molecular Genetics & Genomic Medicine
To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94002a614765a6212cf6939b66321185
http://europepmc.org/articles/PMC6382448
http://europepmc.org/articles/PMC6382448
Autor:
Thomas C. Hart, P. Suzanne Hart
Publikováno v:
Molecular Genetics & Genomic Medicine
There are currently 67 dental schools in the United States and Puerto Rico. According to the 2014 edition of the Official Guide to Dental Schools For Students Entering in Fall 2015 published by the American Dental Education Association (www.adea.org)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63eba281595cd0ed01c85a6459e2daa8
https://doi.org/10.1002/mgg3.216
https://doi.org/10.1002/mgg3.216
Publikováno v:
Molecular Genetics & Genomic Medicine
The cover image based on Commentary An International Summit in Human Genetics and Genomics: Empowering Clinical Practice and Research in Developing Countries by Manjit Kaur, M.S., M.B.A., et al., DOI: 10.1002/mgg3.599.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d3d70821e8a5e9cb551f3d5800c8f1
http://europepmc.org/articles/PMC6382440
http://europepmc.org/articles/PMC6382440
Autor:
Colin A. Johnson, Ariane Berdal, Craig B. Langman, Detlef Bockenhauer, P. Suzanne Hart, Alan J. Mighell, Pascal Houillier, Marie-Claude Addor, Denise Ruehmann, Naomi Issler, Alain Verloes, Arnaud Picard, Audrey Asselin, Gwenaelle Roussey, Mickael Quentric, Virginie Laugel, Cédric Le Caignec, H.P.N. Safatle, David A. McCredie, Hercílio Martelli-Júnior, Robert Kleta, Enriko Klootwijk, Thomas C. Hart, Agnès Bloch-Zupan, Miikka Vikkula, Toshiyasu Koike, Marie Lucile Figueres, Bertrand Isidor, Ricardo D. Coletta, Ana Carolina Acevedo, Sandra Gruessel, Hiroshi Kitagawa, Emmanuelle Ginglinger, James A. Poulter, Anita Rauch, Sue Povey, Ute Neugebauer, Graciana Jaureguiberry, Deborah Bartholdi, Stephen B. Walsh, Alexander J. Howie, Muriel De La Dure-Molla, Julien Guiol, Chris F. Inglehearn, Eberhard Schlatter, Jeremy K. Nicholson, Vaksha Patel, Markus Bleich, Robert J. Unwin, Matthieu Schmittbuhl, François Clauss, Horia Stanescu, Clare V. Logan, Steven J. Scheinman, Sandra Pajarola, Pedro E. Dos Santos Netos, Nina Himmerkus, Alan Medlar, Giuseppina Spartà, David A. Parry, Chris Laing, Aurore Coulomb, Suhaila Al-Bahlani, Carolin Sandmann, Isabelle Bailleul-Forestier, Paulo Marcio Yamaguti, Didem Ozdemir-Ozenen, Roger C. Shore, William A. Gahl, Mathilde Huckert, Steven L. Robinette
Publikováno v:
Nephron. Physiology
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6
Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, import
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a9da0d46a0cce56715c53f3a9ed3b8
https://doi.org/10.1159/000349989
https://doi.org/10.1159/000349989
Autor:
Martin R. Pollak, Kerstin Lindblad-Toh, Helena Hůlková, Matthew Defelice, Veronika Baresova, Chun Ye, Melissa Parkin, James T. Robinson, Ramnik J. Xavier, Scott Steelman, Mark J. Daly, Eric S. Lander, Danielle Perrin, Corinne Antignac, Edward Kelliher, Seth L. Alper, Michael C. Zody, Aviv Regev, Robert E. Handsaker, David B. Jaffe, Jana Sovová, Brendan Blumenstiel, Todd Green, Irit Gat-Viks, Petr Vylet'al, Christine Stevens, Mitchell Guttman, Nathalie Pochet, Carrie Sougnez, Snaevar Sigurdsson, Chad Nusbaum, Moran N. Cabili, Steven J. Scheinman, Anthony J. Bleyer, Elizabeth J. Rossin, Daniel Aird, Kristian Cibulskis, Andreas Gnirke, Stacey Gabriel, P. Suzanne Hart, Stanislav Kmoch, Andrew Kirby, Riza M. Daza
Publikováno v:
Nature genetics, vol 45, iss 3
NATURE GENETICS
Regev via Courtney Crummett
NATURE GENETICS
Regev via Courtney Crummett
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the sim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3467c7a6bd9f4ff8aaf17ae1c2d24278
https://doi.org/10.1038/ng.2543
https://doi.org/10.1038/ng.2543
Autor:
P. Suzanne Hart, Maximilian Muenke
Publikováno v:
Molecular Genetics & Genomic Medicine
As 2015 draws to a close so too do the many celebrations of the 150th anniversary of Mendel's presentation of his work entitled “Experiments in Plant Hybridization” to the Natural History Society of Brno.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83283901b34cb928acd8d1d3bc18a11f
https://pubmed.ncbi.nlm.nih.gov/26740938
https://pubmed.ncbi.nlm.nih.gov/26740938
Autor:
Cesar Augusto Raposo-Amaral, Rafael Fantelli Stelini, Cassio Eduardo Raposo-Amaral, Nivaldo Alonso, Celso Luiz Buzzo, Débora Romeo Bertola, Sangwoo T. Han, P. Suzanne Hart, Rafael Denadai, C A Kim, Thomas C. Hart
Publikováno v:
American Journal of Medical Genetics Part A. :732-742
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0cf97477542b254a0b0c31596215e15
https://doi.org/10.1002/ajmg.a.35228
https://doi.org/10.1002/ajmg.a.35228
Autor:
Judith Chezar, T. C. Markello, Dan Geiger, MaryPat Jones, Horia Stanescu, Tzippora Falik-Zaccai, Yair Anikster, Morad Khayat, Praveen F. Cherukuri, Joseph Manaster, Lauren C. Riney, Nehama Kfir, Fatma Gumruk, William A. Gahl, Andrew S. Freiberg, P. Suzanne Hart, Nancy F. Hansen, Mauricio Arcos-Burgos, Hailey Edwards, Robert Kleta, Pedro Cruz, Yifat Zivony-Elboum, Jim C. Mullikin, Pranoot Tanpaiboon, Mutlu Arat, McDonald K. Horne, Kerstin Jurk, Beate E. Kehrel, Mualla Cetin, Meral Gunay-Aygun, James G. White, Alan T. Nurden, Irina Maric, Marjan Huizing, Katherine Patzel, Adel Shalata
Publikováno v:
Blood. 116:4990-5001
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPS is associated with a bleeding tendency, myelofibro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e84bf06471d005d8edfe541aefd537
https://doi.org/10.1182/blood-2010-05-286534
https://doi.org/10.1182/blood-2010-05-286534