Risultati della ricerca - Elizabeth McCracken
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Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review di Jerry Vockley, Deborah Marsden, Elizabeth McCracken, Stephanie J. DeWard, Amanda Barone, Kristen Hsu, Emil Kakkis
Pubblicazione 2015Revisão -
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Prognostic significance of primary tumor sidedness in patients undergoing liver resection for metastatic colorectal cancer di Elizabeth McCracken, Emily K., Samsa, Gregory P., Fisher, Deborah A., Farrow, Norma E., Landa, Karenia, Shah, Kevin N., Blazer, Dan G., Zani, Sabino
Pubblicazione 2019testo -
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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders di Jerry Vockley, Joel Charrow, J Ganesh, Marthand S. Eswara, George A. Díaz, Elizabeth McCracken, Robert L. Conway, Gregory M. Enns, Joanne P. Starr, R. Wang, José E. Abdenur, Joan Sánchez-de-Toledo, Deborah Marsden
Pubblicazione 2016Artigo -
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Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region di Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tianjian Chen, José E. Martínez, Yao‐Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng Fan, Joyce E. Fox, Judith A. Martin, Hoda Abdel‐Hamid, Elizabeth McCracken, Barbara McGillivray, Diane Masser‐Frye, Taosheng Huang
Pubblicazione 2012Artigo -
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A copy number variation morbidity map of developmental delay di Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles A. Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel‐Hamid, Patricia I. Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen A. Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome L. Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler
Pubblicazione 2011Artigo
Strumenti per la ricerca:
Soggetti correlati
Medicine
Biology
Gene
Internal medicine
Beta oxidation
Craniofacial
Genetics
Genotype
Metabolism
Phenotype
Adverse effect
Allele
Autism
Autism spectrum disorder
Biochemistry
Candidate gene
Cardiac function curve
Cardiology
Cardiomyopathy
Chromosome
Cohort
Comparative genomic hybridization
Compound heterozygosity
Copy-number variation
Developmental disorder
Ejection fraction
Endocrinology
Epilepsy
Exome
Exome sequencing