Publications by authors named "Kelly Gonzalez"

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Metabolic Support for 40 years at a University Hospital.
Charles W Van Way, Ajanta Raman, Laura Kohmetscher, Nicole Mackeben, Kelly Gonzalez

Nutr Clin Pract· December 2019

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Barbara Epstein, AHIP, FMLA, Medical Library Association President, 2017-2018.
Kelly Gonzalez

J Med Libr Assoc· October 2017

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New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Lea Tuzovic, Sha Tang, Russell S Miller, Luis Rohena, Layla Shahmirzadi, Kelly Gonzalez

Fetal Diagn Ther· October 2016

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A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice.
Lea Tuzovic, Lan Yu, Wenqi Zeng, Xiang Li, Hong Lu, Kelly Df Gonzalez

Rare Dis· July 2014

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.
Luis Rohena, Julie Neidich, Megan Truitt Cho, Kelly Df Gonzalez, Sha Tang

Rare Dis· July 2014

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Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Layla Shahmirzadi, Elizabeth C Chao, Erika Palmaer, Melissa C Parra, Sha Tang, Kelly D Farwell Gonzalez

Genet Med· May 2014

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Georgia's plan for health IT: help you do what you do best.
Kelly Gonzalez

J Med Assoc Ga· August 2012

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[A retrospective study analysis of urinary hippuric acid levels in occupational toxicology exams].
Kelly Cristina Gonzalez, Fernando Rodrigues Sagebin, Paola Garcia Oliveira, Luiz Glock, Flavia Valladão Thiesen

Cien Saude Colet· June 2010

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Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.
Kelly D Gonzalez, Katie A Noltner, Carolyn H Buzin, Dongqing Gu, Cindy Y Wen-Fong

J Clin Oncol· March 2009

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Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.
William A Scaringe, Kai Li, Dongqing Gu, Kelly D Gonzalez, Zhenbin Chen

Hum Mol Genet· September 2008

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p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.
Kelly Gonzalez, Cindy Fong, Carolyn Buzin, Steve S Sommer, Juan-Sebastian Saldivar

Curr Protoc Hum Genet· April 2008

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Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature.
Dongqing Gu, William A Scaringe, Kai Li, Juan-Sebastian Saldivar, Kathleen A Hill, Kelly D Gonzalez

Hum Mutat· August 2007

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Evidence for mutation showers.
Jicheng Wang, Kelly D Gonzalez, William A Scaringe, Kimberly Tsai, Ning Liu

Proc Natl Acad Sci U S A· May 2007

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Somatic microindels: analysis in mouse soma and comparison with the human germline.
Kelly D Gonzalez, Kathleen A Hill, Kai Li, Wenyan Li, William A Scaringe

Hum Mutat· January 2007

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If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort.
Charité Ricker, Veronica Lagos, Nancy Feldman, Susan Hiyama, Sue Fuentes, Kelly Gonzalez

J Genet Couns· December 2006

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Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype.
Kathleen A Hill, Victoria L Buettner, Analeah Heidt, Lin-Ling Chen, Wenyan Li, Kelly D Gonzalez

Carcinogenesis· September 2006

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Preferential occurrence of 1-2 microindels.
Kathleen A Hill, Kelly D Gonzalez, William A Scaringe, Ji-Cheng Wang, Steve S Sommer

Hum Mutat· January 2006

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Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice.
Kathleen A Hill, Asanga Halangoda, Petra W Heinmoeller, Kelly Gonzalez, Chaniga Chitaphan

Environ Mol Mutagen· June 2005

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Synthesis and in vitro characterization of a tissue-selective fullerene: vectoring C(60)(OH)(16)AMBP to mineralized bone.
Kelly A Gonzalez, Lon J Wilson, Wenju Wu, George H Nancollas

Bioorg Med Chem· June 2002

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