検索結果 - 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 著者: Jerry Vockley, Deborah Marsden, Elizabeth McCracken, Stephanie J. DeWard, Amanda Barone, Kristen Hsu, Emil Kakkis
出版事項 2015Revisão -
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Prognostic significance of primary tumor sidedness in patients undergoing liver resection for metastatic colorectal cancer 著者: Elizabeth McCracken, Emily K., Samsa, Gregory P., Fisher, Deborah A., Farrow, Norma E., Landa, Karenia, Shah, Kevin N., Blazer, Dan G., Zani, Sabino
出版事項 2019テキスト -
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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders 著者: 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
出版事項 2016Artigo -
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Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region 著者: 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
出版事項 2012Artigo -
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A copy number variation morbidity map of developmental delay 著者: 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
出版事項 2011Artigo
関連主題
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