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141.
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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. [electronic resource] by
- Pehlivan, Davut
- Coban Akdemir, Zeynep
- Karaca, Ender
- Bayram, Yavuz
- Jhangiani, Shalini
- Yildiz, Edibe Pembegul
- Muzny, Donna
- Uluc, Kayihan
- Gibbs, Richard A
- Elcioglu, Nursel
- Lupski, James R
- Harel, Tamar
Producer: 20150710
In:
Human genetics vol. 134
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142.
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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. [electronic resource] by
- Pehlivan, Davut
- Karaca, Ender
- Aydin, Hatip
- Beck, Christine R
- Gambin, Tomasz
- Muzny, Donna M
- Bilge Geckinli, B
- Karaman, Ali
- Jhangiani, Shalini N
- Gibbs, Richard A
- Lupski, James R
Producer: 20150413
In:
European journal of human genetics : EJHG vol. 22
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143.
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Microarray analysis of somatostatin receptor 5-regulated gene expression profiles in murine pancreas. [electronic resource] by
- Patel, Sanjeet G
- Zhou, Guisheng
- Liu, Shi-He
- Li, Min
- Jeong, Jae-Wook
- DeMayo, Francesco J
- Gingras, Marie-Claude
- Gibbs, Richard A
- Fisher, William E
- Brunicardi, F Charles
Producer: 20090716
In:
World journal of surgery vol. 33
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144.
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. [electronic resource] by
- Campbell, Ian M
- Gambin, Tomasz
- Jhangiani, Shalini
- Grove, Megan L
- Veeraraghavan, Narayanan
- Muzny, Donna M
- Shaw, Chad A
- Gibbs, Richard A
- Boerwinkle, Eric
- Yu, Fuli
- Lupski, James R
Producer: 20161219
In:
Human mutation vol. 37
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145.
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Genetic testing, biotechnology, and GMOs: A snapshot of public opinion, 2003 through 2004. [electronic resource] by
- Alford, Raye L
- Morris, Kelley E
- Rives, C Michelle
- Scherer, Steven E
- Weinstock, George
- Gibbs, Richard A
- Ghonima, Karim
- Belcher, Mark
- Valdes, Hayden
- Sumners, Carolyn
- Law, Colin
- Reiff, Patricia
Producer: 20050929
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 7
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146.
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Analysis of transcriptome data in the red flour beetle, Tribolium castaneum. [electronic resource] by
- Park, Yoonseong
- Aikins, Jamie
- Wang, L J
- Beeman, Richard W
- Oppert, Brenda
- Lord, Jeffrey C
- Brown, Susan J
- Lorenzen, Marcé D
- Richards, Stephen
- Weinstock, George M
- Gibbs, Richard A
Producer: 20080626
In:
Insect biochemistry and molecular biology vol. 38
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147.
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Disruptive TP53 mutation is associated with aggressive disease characteristics in an orthotopic murine model of oral tongue cancer. [electronic resource] by
- Sano, Daisuke
- Xie, Tong-Xin
- Ow, Thomas J
- Zhao, Mei
- Pickering, Curtis R
- Zhou, Ge
- Sandulache, Vlad C
- Wheeler, David A
- Gibbs, Richard A
- Caulin, Carlos
- Myers, Jeffrey N
Producer: 20120120
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 17
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148.
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Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby. [electronic resource] by
- Wong, Emily S W
- Papenfuss, Anthony T
- Heger, Andreas
- Hsu, Arthur L
- Ponting, Chris P
- Miller, Robert D
- Fenelon, Jane C
- Renfree, Marilyn B
- Gibbs, Richard A
- Belov, Katherine
Producer: 20111205
In:
BMC genomics vol. 12
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149.
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Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. [electronic resource] by
- Posey, Jennifer E
- Burrage, Lindsay C
- Campeau, Philippe M
- Lu, James T
- Eble, Tanya N
- Kratz, Lisa
- Schlesinger, Alan E
- Gibbs, Richard A
- Lee, Brendan H
- Nagamani, Sandesh C S
Producer: 20160219
In:
American journal of medical genetics. Part A vol. 167
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150.
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Sequence analysis of six blood pressure candidate regions in 4,178 individuals: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. [electronic resource] by
- Morrison, Alanna C
- Bis, Joshua C
- Hwang, Shih-Jen
- Ehret, Georg B
- Lumley, Thomas
- Rice, Kenneth
- Muzny, Donna
- Gibbs, Richard A
- Boerwinkle, Eric
- Psaty, Bruce M
- Chakravarti, Aravinda
- Levy, Daniel
Producer: 20151207
In:
PloS one vol. 9
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151.
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. [electronic resource] by
- Wang, Min
- Beck, Christine R
- English, Adam C
- Meng, Qingchang
- Buhay, Christian
- Han, Yi
- Doddapaneni, Harsha V
- Yu, Fuli
- Boerwinkle, Eric
- Lupski, James R
- Muzny, Donna M
- Gibbs, Richard A
Producer: 20151125
In:
BMC genomics vol. 16
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152.
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Whole genome sequence analysis of serum amino acid levels. [electronic resource] by
- Yu, Bing
- de Vries, Paul S
- Metcalf, Ginger A
- Wang, Zhe
- Feofanova, Elena V
- Liu, Xiaoming
- Muzny, Donna Marie
- Wagenknecht, Lynne E
- Gibbs, Richard A
- Morrison, Alanna C
- Boerwinkle, Eric
Producer: 20170710
In:
Genome biology vol. 17
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153.
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. [electronic resource] by
- Hampton, Oliver A
- English, Adam C
- Wang, Mark
- Salerno, William J
- Liu, Yue
- Muzny, Donna M
- Han, Yi
- Wheeler, David A
- Worley, Kim C
- Lupski, James R
- Gibbs, Richard A
Producer: 20180521
In:
BMC genomics vol. 18
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154.
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Community annotation: procedures, protocols, and supporting tools. [electronic resource] by
- Elsik, Christine G
- Worley, Kim C
- Zhang, Lan
- Milshina, Natalia V
- Jiang, Huaiyang
- Reese, Justin T
- Childs, Kevin L
- Venkatraman, Anand
- Dickens, C Michael
- Weinstock, George M
- Gibbs, Richard A
Producer: 20061205
In:
Genome research vol. 16
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155.
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. [electronic resource] by
- Bamshad, Michael J
- Shendure, Jay A
- Valle, David
- Hamosh, Ada
- Lupski, James R
- Gibbs, Richard A
- Boerwinkle, Eric
- Lifton, Richard P
- Gerstein, Mark
- Gunel, Murat
- Mane, Shrikant
- Nickerson, Deborah A
Producer: 20121113
In:
American journal of medical genetics. Part A vol. 158A
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156.
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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. [electronic resource] by
- Bainbridge, Matthew N
- Cooney, Erin
- Miller, Marcus
- Kennedy, Adam D
- Wulff, Jacob E
- Donti, Taraka
- Jhangiani, Shalini N
- Gibbs, Richard A
- Elsea, Sarah H
- Porter, Brenda E
- Graham, Brett H
Producer: 20180403
In:
Molecular genetics and metabolism vol. 121
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157.
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Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. [electronic resource] by
- Sabo, Aniko
- Mishra, Pamela
- Dugan-Perez, Shannon
- Voruganti, V Saroja
- Kent, Jack W
- Kalra, Divya
- Cole, Shelley A
- Comuzzie, Anthony G
- Muzny, Donna M
- Gibbs, Richard A
- Butte, Nancy F
Producer: 20180101
In:
Obesity (Silver Spring, Md.) vol. 25
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158.
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Building a comprehensive genomic program for hepatocellular carcinoma. [electronic resource] by
- Harring, Theresa R
- Guiteau, Jacfranz J
- Nguyen, N Thao T
- Cotton, Ron T
- Gingras, Marie-Claude
- Wheeler, David A
- O'Mahony, Christine A
- Gibbs, Richard A
- Brunicardi, F Charles
- Goss, John A
Producer: 20111222
In:
World journal of surgery vol. 35
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159.
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A primer on a hepatocellular carcinoma bioresource bank using the cancer genome atlas guidelines: practical issues and pitfalls. [electronic resource] by
- Nguyen, N Thao T
- Cotton, Ron T
- Harring, Theresa R
- Guiteau, Jacfranz J
- Gingras, Marie-Claude
- Wheeler, David A
- O'Mahony, Christine A
- Gibbs, Richard A
- Brunicardi, F Charles
- Goss, John A
Producer: 20111222
In:
World journal of surgery vol. 35
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160.
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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. [electronic resource] by
- Saliba, Jason
- Zabriskie, Ryan
- Ghosh, Rajarshi
- Powell, Bradford C
- Hicks, Stephanie
- Kimmel, Marek
- Meng, Qingchang
- Ritter, Deborah I
- Wheeler, David A
- Gibbs, Richard A
- Tsai, Francis T F
- Plon, Sharon E
Producer: 20170316
In:
Pharmacogenetics and genomics vol. 26
Availability: No items available.
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