Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Tracey, Lewis"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101485- (2024)
Externí odkaz:
https://doaj.org/article/961651295d934298897ab7e3f49159c5
Publikováno v:
BMC Bioinformatics, Vol 23, Iss 1, Pp 1-14 (2022)
Abstract Background Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture da
Externí odkaz:
https://doaj.org/article/b03b8719c020450ebabca87f8c42e7cf
Publikováno v:
Journal of Obesity, Vol 2015 (2015)
Background/Objectives. To identify copy number variants (CNVs) which are associated with body mass index (BMI). Subjects/Methods. CNVs were identified using array comparative genomic hybridization (aCGH) on members of pedigrees ascertained through se
Externí odkaz:
https://doaj.org/article/4b51710150f04d7aa0945b237bf1fd31
Autor:
Tracey Lewis
Publikováno v:
International Review of Mission. 105:52-61
"Evangelism" carries a lot of baggage! And many in our 21st-century church feel that the baggage was packed by someone else and contains clothes that no longer fit or equip them for sharing the gospel with people and life in the present world. If eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10fc76cb1930ac65ce7e8b52dfe3847f
https://doi.org/10.1111/irom.12129
https://doi.org/10.1111/irom.12129
Autor:
Jennifer L. R. Mayer, Pinar Bayrak-Toydemir, Jamie McDonald, Alejandro Berenstein, Angela E. Scheuerle, Peter Johnson, Marcie A. Steeves, Tracey Lewis, Francine Blei, Angela E. Lin, Michelle Sorscher, David A. Stevenson, J. Fredrik Grimmer, Gresham T. Richter, Whitney Wooderchak-Donahue
RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8166369654cd9b73d3d46e94ef7a12e
https://europepmc.org/articles/PMC6138627/
https://europepmc.org/articles/PMC6138627/
Autor:
Joan M. Stoler, Pinar Bayrak-Toydemir, Whitney Wooderchak-Donahue, R. Thomas Collins, Tatiana Tvrdik, Alizabeth E. Berg, Mayra Martinez Ojeda, Anji T. Yetman, Steven B. Bleyl, Amy E. Roberts, Chad Vansant-Webb, Joshua A. Raney, Rebecca Mesley, Alan F. Rope, Jennifer Stocks, David A. Bull, Tracey Lewis, Parker Plant, Lindsay Meyers, Audrey Woerner, Ronald V. Lacro
Publikováno v:
American Journal of Medical Genetics Part A. 167:1747-1757
Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin-1 (FBN1) mutations in the setting of Marfan syndrome, or may occur as a result of other genetic defects with diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99225f504d93b1e91eb8eb4c5af37f25
https://doi.org/10.1002/ajmg.a.37085
https://doi.org/10.1002/ajmg.a.37085
Autor:
Daniel H. Farkas, Rong Mao, Shale Dames, D. Hunter Best, Tracey Lewis, Cecily P. Vaughn, Kelli Sumner, Whitney Wooderchak-Donahue
Publikováno v:
Molecular Pathology in Clinical Practice ISBN: 9783319196732
Molecular pathology is based on the principles, techniques, and tools of molecular biology as they are applied to diagnostic medicine in the clinical laboratory. These tools were developed in the research setting and perfected throughout the second h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7fdd57c3d314bc35a326dc5034535a5
https://doi.org/10.1007/978-3-319-19674-9_2
https://doi.org/10.1007/978-3-319-19674-9_2
Autor:
Pinar Bayrak-Toydemir, Francine Blei, Tracey Lewis, Ilona J. Frieden, Dawn H. Siegel, J. Fredrik Grimmer, Joseph T. Shieh, Sheri Mitchell, David A. Stevenson, Denise W. Metry, Beth A. Drolet, Hülya Kayserili
Publikováno v:
American Journal of Medical Genetics Part A. :1363-1367
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc9cd3203b3da07c8d5466bbf04d237
https://doi.org/10.1002/ajmg.a.35341
https://doi.org/10.1002/ajmg.a.35341
Autor:
Tracey Lewis, Carmel Edwards
Publikováno v:
Nursing Management. 14:24-27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13019c4c41f25d38015941cb675b4c46
https://doi.org/10.7748/nm2008.03.14.10.24.c6492
https://doi.org/10.7748/nm2008.03.14.10.24.c6492
Autor:
Tina Pesaran, David Salvador, Pinar Bayrak-Toydemir, Chia-Ling Gau, Katrina Gillespie, Alison Millson, Genevieve Pont-Kingdon, Elaine Lyon, Tracey Lewis
Publikováno v:
The Journal of molecular diagnostics : JMD. 17(5)
Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. SMAD4 is part of the SMAD gene family. To date, there has been no report in the literature of a S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bfb6876b2e7a655986a42c639202c01
https://pubmed.ncbi.nlm.nih.gov/26165824
https://pubmed.ncbi.nlm.nih.gov/26165824