Zobrazeno 1 - 10
of 13 548
pro vyhledávání: '"M, Helm"'
Autor:
Benjamin M. Helm, Lindsey R. Helvaty, Erin Conboy, Gabrielle C. Geddes, Brett H. Graham, Melissa Lah, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this t
Externí odkaz:
https://doaj.org/article/551b950817c64a61b3f25def3273b75d
Publikováno v:
Research Notes. :148-171
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c00a960c53b8e038188bd3f818e715c1
https://doi.org/10.31654/2663-4902-2020-pp-2-148-171
https://doi.org/10.31654/2663-4902-2020-pp-2-148-171
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Reinhardt, Kurt F.
Publikováno v:
MLN, 1978 Apr 01. 93(3), 521-525.
Externí odkaz:
https://www.jstor.org/stable/2906664
Autor:
Closs, August
Publikováno v:
The Modern Language Review, 1986 Apr 01. 81(2), 534-536.
Externí odkaz:
https://www.jstor.org/stable/3729796
Autor:
Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)
Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined di
Externí odkaz:
https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c
Autor:
Rebecca M. Tuska, Sophia M. Helm, C. Foster Graf, Courtney James, Gabriel Kong, Leah T. Stiemsma, David B. Green, Susan Edgar Helm
Publikováno v:
Frontiers in Nutrition, Vol 9 (2023)
Intestinal microbiota, diet, and physical activity are inextricably linked to inflammation occurring in the presence of tumor progression and declining neurocognition. This study aimed to explore how fecal microbiota, inflammatory biomarkers, and neu
Externí odkaz:
https://doaj.org/article/2e66e7ff048f47e58adbd8fd40b3b5b5
Autor:
Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline C. Hoover, Matthew D. Durbin, Lindsey R. Elmore, Manyan Huang, Michael Johansen, Ming Li, Leon F. Przybylowski, Gabrielle C. Geddes, Stephanie M. Ware
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 19 (2022)
Background Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportunity to inv
Externí odkaz:
https://doaj.org/article/40115732d18f4259bb543ce4c57ec276
Autor:
Krummel, Richard Frank
Publikováno v:
Colloquia Germanica, 1987 Jan 01. 20(1), 97-97.
Externí odkaz:
https://www.jstor.org/stable/23980717
Autor:
Stern, J. P.
Publikováno v:
The Journal of English and Germanic Philology, 1989 Apr 01. 88(2), 295-302.
Externí odkaz:
https://www.jstor.org/stable/27710178