Resultados da busca - Goetz, Kerry
- Mostrando 1 - 13 resultados de 13
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Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss por Alapati, Akhila, Goetz, Kerry, Suk, John, Navani, Mili, Al-Tarouti, Amani, Jayasundera, Thiran, Tumminia, Santa J., Lee, Pauline, Ayyagari, Radha
Publicado em 2014Texto -
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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort por Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.
Publicado em 2020Texto -
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Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network por Goetz, Kerry E., Reeves, Melissa J., Gagadam, Shaina, Blain, Delphine, Bender, Chelsea, Lwin, Cara, Naik, Amelia, Tumminia, Santa J., Hufnagel, Robert B.
Publicado em 2020Texto -
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Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa por Sullivan, Lori S., Bowne, Sara J., Reeves, Melissa J., Blain, Delphine, Goetz, Kerry, NDifor, Vida, Vitez, Sally, Wang, Xinjing, Tumminia, Santa J., Daiger, Stephen P.
Publicado em 2013Texto -
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Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository por Parrish, Rebecca S., Garafalo, Alexandra V., Ndifor, Vida, Goetz, Kerry E., Reeves, Melissa J., Yim, Annette, Cooper, Remy C., Iano-Fletcher, Jemma, Wang, Xinjing, Tumminia, Santa J.
Publicado em 2016Texto -
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Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy por Xu, Shunbin, Coku, Ardian, Muraleedharan, Chithra K., Harajli, Ali, Mishulin, Eric, Dahabra, Chafic, Choi, Joanne, Garcia, William J., Webb, Kaylie, Birch, David, Goetz, Kerry, Li, Weifeng
Publicado em 2020Texto -
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Improving the value of clinical research through the use of Common Data Elements (CDEs) por Sheehan, Jerry, Hirschfeld, Steven, Foster, Erin, Ghitza, Udi, Goetz, Kerry, Karpinski, Joanna, Lang, Lisa, Moser, Richard P., Odenkirchen, Joanne, Reeves, Dianne, Rubinstein, Yaffa, Werner, Ellen, Huerta, Michael
Publicado em 2016Texto -
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Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases por Qian, Xinye, Wang, Jun, Wang, Meng, Igelman, Austin D., Jones, Kaylie D., Li, Yumei, Wang, Keqing, Goetz, Kerry E., Birch, David G., Yang, Paul, Pennesi, Mark E., Chen, Rui
Publicado em 2021Texto -
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Clinical, social, and policy factors in COVID-19 cases and deaths: methodological considerations for feature selection and modeling in county-level analyses por Madlock-Brown, Charisse, Wilkens, Ken, Weiskopf, Nicole, Cesare, Nina, Bhattacharyya, Sharmodeep, Riches, Naomi O., Espinoza, Juan, Dorr, David, Goetz, Kerry, Phuong, Jimmy, Sule, Anupam, Kharrazi, Hadi, Liu, Feifan, Lemon, Cindy, Adams, William G.
Publicado em 2022Texto -
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Correction: Clinical, social, and policy factors in COVID-19 cases and deaths: methodological considerations for feature selection and modeling in county-level analyses por Madlock-Brown, Charisse, Wilkens, Ken, Weiskopf, Nicole, Cesare, Nina, Bhattacharyya, Sharmodeep, Riches, Naomi O., Espinoza, Juan, Dorr, David, Goetz, Kerry, Phuong, Jimmy, Sule, Anupam, Kharrazi, Hadi, Liu, Feifan, Lemon, Cindy, Adams, William G.
Publicado em 2022Texto -
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease por Zernant, Jana, Lee, Winston, Wang, Jun, Goetz, Kerry, Ullah, Ehsan, Nagasaki, Takayuki, Su, Pei-Yin, Fishman, Gerald A., Tsang, Stephen H., Tumminia, Santa J., Brooks, Brian P., Hufnagel, Robert B., Chen, Rui, Allikmets, Rando
Publicado em 2022Texto