Zobrazeno 1 - 10
of 49
pro vyhledávání: '"George Anadiotis"'
Autor:
Christa Slaught, Elizabeth G. Berry, Lindsay Bacik, Alison H. Skalet, George Anadiotis, Therese Tuohy, Sancy A. Leachman
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-11 (2021)
Abstract Background In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of multiple cancer-associated genes. However, the clinical value of multiple-g
Externí odkaz:
https://doaj.org/article/d8a2b395d3db4c1e8d80ed3ad6480dc7
Autor:
Margaret P. Adam, Karen W. Gripp, Kelly Kernan, Dan Doherty, George Anadiotis, Rebecca Sahraoui, Jennifer C. Dempsey, Michele G. Mehaffey, Daniel G. Miller, Carrie Fagerstrom, Yassmine Akkari, Katia Sol-Church, Heather C Mefford, Candace T. Myers, Wagner A.R. Baratela, Deborah L. Stabley, Martin Kircher, Michael B. Bober, Deborah A. Nickerson, Michael J. Bamshad, Katherine M. Robbins, Amy Lacroix, Angela L. Duker
Publikováno v:
The American Journal of Human Genetics. 104:35-44
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9942a8e9f1625712d3772d6888d5194
https://doi.org/10.1016/j.ajhg.2018.11.005
https://doi.org/10.1016/j.ajhg.2018.11.005
Autor:
Therese Tuohy, Christa Slaught, Sancy A. Leachman, Elizabeth G. Berry, George Anadiotis, Alison H. Skalet, Lindsay Bacik
Publikováno v:
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-11 (2021)
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-11 (2021)
Background In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of multiple cancer-associated genes. However, the clinical value of multiple-gene panel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021a25ba2936bb909fbcb0822a112535
http://europepmc.org/articles/PMC7863461
http://europepmc.org/articles/PMC7863461
Autor:
Bert B.A. de Vries, Lakshmi Mehta, Geert Mortier, Frank Speleman, William Reardon, George Anadiotis, Carrie Fagerstrom, Teresa Costa, Jan Hellemans, Björn Menten, Daniel J. Kingsbury, Karen Buysse, Barbara McGillivray, Nicole de Leeuw
Publikováno v:
European Journal of Medical Genetics, 52, 101-7
European Journal of Medical Genetics, 52, 2-3, pp. 101-7
European Journal of Medical Genetics, 52, 2-3, pp. 101-7
Item does not contain fulltext Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d32df67ca99c0586c7fafa3b41a172
https://doi.org/10.1016/j.ejmg.2009.03.001
https://doi.org/10.1016/j.ejmg.2009.03.001
Autor:
Mason Barr, Karen W. Gripp, Donna M. McDonald-McGinn, Stephen A. Zderic, George Anadiotis, Elaine H. Zackai
Publikováno v:
American Journal of Medical Genetics. 82:363-367
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cf7d1930fb56ba5d4ed46a3ab107f0b
https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<363::aid-ajmg1>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<363::aid-ajmg1>3.0.co
Autor:
George Anadiotis, Andrea E. DeBarber, Dinelli M. Monson, Charles J. Bock, Ann U. Stout, Robert D. Steiner, Louise S. Merkens
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis1. At least 50 different causative mutations have been identified in the CYP27A1 gene encoding for a sterol 27-hydroxylase important in bile acid synthesis2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33a5b1eebb06fce79d6bc7664d42c56
https://europepmc.org/articles/PMC3366103/
https://europepmc.org/articles/PMC3366103/
Autor:
Konstantinos Kotis, Panos Alexopoulos, Aristotelis Zosakis, Konstantinos Mpaslis, George Anadiotis, Konstantinos Kafentzis
Publikováno v:
Lecture Notes in Computer Science ISBN: 9783642134852
ESWC (1)
ESWC (1)
In this paper we describe the application of various Semantic Web technologies and their combination with emerging Web 2.0 use patterns in the eParticipation domain and show how they are used in an operational system for the Regional Government of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7f615b9871112c550bc0ed56cb447d8
https://doi.org/10.1007/978-3-642-13486-9_18
https://doi.org/10.1007/978-3-642-13486-9_18
Autor:
George Anadiotis, Eyal Oren, Spyros Kotoulas, Ronny Siebes, Annette ten Teije, Frank van Harmelen
Publikováno v:
Journal of Web Semantics, 7(4). Elsevier
Oren, E, Kotoulas, S, Anadiotis, G, Siebes, R M, ten Teije, A C M & van Harmelen, F A H 2009, ' MARVIN: Distributed reasoning over large-scale Semantic Web data ', Journal of Web Semantics, vol. 7, no. 4 . https://doi.org/10.1016/j.websem.2009.09.002
Oren, E, Kotoulas, S, Anadiotis, G, Siebes, R M, ten Teije, A C M & van Harmelen, F A H 2009, ' MARVIN: Distributed reasoning over large-scale Semantic Web data ', Journal of Web Semantics, vol. 7, no. 4 . https://doi.org/10.1016/j.websem.2009.09.002
Many Semantic Web problems are difficult to solve through common divide-and-conquer strategies, since they are hard to partition. We present Marvin, a parallel and distributed platform for processing large amounts of RDF data, on a network of loosely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c954ee051c8ce6c4c1e772d3e1be24
https://research.vu.nl/en/publications/dcf91394-8926-4b07-93a7-e4646dea2a19
https://research.vu.nl/en/publications/dcf91394-8926-4b07-93a7-e4646dea2a19
Autor:
Nathalie Johnson, Joseph H. Frankhouse, Randall G. Lee, William Warner Johnson, Eugene Y. Chang, George Anadiotis, Paul B. Dorsey, Deb Walts, Kelsey Kiser
Publikováno v:
American journal of surgery. 191(5)
Background: Microsatellite instability (MSI) may be a molecular marker of colorectal tumor biology. We sought to evaluate the incidence and significance of MSI in an unselected colorectal cancer population. Methods: Colorectal cancer cases from a com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6af4c38310c8cb79027e208db7518e1
https://pubmed.ncbi.nlm.nih.gov/16647353
https://pubmed.ncbi.nlm.nih.gov/16647353
Publikováno v:
The Journal of pediatrics. 138(1)
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1ecb47dc762939049a944c2b556a7a
https://pubmed.ncbi.nlm.nih.gov/11148526
https://pubmed.ncbi.nlm.nih.gov/11148526