Výsledky vyhledávání - Rebecca Hernan
- Zobrazuji výsledky 1 - 5 z 5
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1
The influence of genetics in congenital diaphragmatic hernia Autor Lan Yu, Rebecca Hernan, Julia Wynn, Wendy K. Chung
Vydáno 2019Revisão -
2
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease Autor Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda Thomas‐Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung
Vydáno 2023Artigo -
3
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures Autor Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akçaboy, Shiyong Liu, Hyunglok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oğuz, Ülkühan Öztoprak, Jeroen H. F. de Baaij, Jelena Ivanisevic, Erin McGinnis, María J. Guillen Sacoto, Wendy K. Chung, Hugo J. Bellen
Vydáno 2022Artigo -
4
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders Autor Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Guðrún Aspelund, Foong‐Yen Lim, Timothy M. Crombleholme, Robert Cusick, Kenneth S. Azarow, Melissa E. Danko, Dai H. Chung, Brad W. Warner, George B. Mychaliska, Douglas A. Potoka, Amy J. Wagner, Mahmoud Elfiky, Jay M. Wilson, Debbie A. Nickerson, Michael J. Bamshad, Frances A. High, Mauro Longoni, Patricia K. Donahoe, Wendy K. Chung, Yufeng Shen
Vydáno 2018Artigo -
5
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion Autor Guoliang Chai, Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor G Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy‐Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria Betânia Pereira Toralles, Paula M.L. Pitanga, Ratna Dua Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli‐Avella, Nouriya Al‐Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson
Vydáno 2021Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Internal medicine
Medicine
Mutation
Congenital diaphragmatic hernia
Exome
Exome sequencing
Fetus
Intensive care medicine
Missense mutation
Phenotype
Pregnancy
Proband
Bioinformatics
Cohort
Critically ill
Disease
Ectopic expression
Endocrinology
Environmental health
Gene expression
Genetic testing
Heart disease
Intensive care
Intensive care unit
Loss function
Medical genetics
Multiorgan failure