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1
Recombinant DNA applications to human disease
Recombinant DNA applications to human disease
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Recombinant DNA applications to human disease

C. Thomas Caskey; Raymond L White 1943-; Cold Spring Harbor Laboratory

Cold Spring Harbor, N.Y. Cold Spring Harbor Laboratory 1983

Localização: CQ - Conjunto das Químicas    (574.873282 R311 )(Acessar)

2
Somatic cell genetics
Somatic cell genetics
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Somatic cell genetics

NATO Advanced Study Institute of Somatic Cell Genetics (1981 Algarve, Portugal) C. Thomas Caskey; D. Christopher Robbins; North Atlantic Treaty Organization Scientific Affairs Division

New York Plenum Press, published in cooperation with NATO Scientific Affairs Division c1982

Localização: ESALQ - Biblioteca Central    (574.87 C339s 52768 )(Acessar)

3
Somatic Cell Genetics
Somatic Cell Genetics
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Somatic Cell Genetics

C. Thomas Robbins, D. Christopher Caskey D. Christopher Robbins

Springer US 1982

Acesso online

4
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging
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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging

Hou, Ying-Chen Claire ; Yu, Hung-Chun ; Martin, Rick ; Cirulli, Elizabeth T. ; Schenker-Ahmed, Natalie M. ; Hicks, Michael ; Cohen, Isaac V. ; Jönsson, Thomas J. ; Heister, Robyn ; Napier, Lori ; Swisher, Christine Leon ; Dominguez, Saints ; Tang, Haibao ; Li, Weizhong ; Perkins, Bradley A. ; Barea, Jaime ; Rybak, Christina ; Smith, Emily ; Duchicela, Keegan ; Doney, Michael ; Brar, Pamila ; Hernandez, Nathaniel ; Kirkness, Ewen F. ; Kahn, Andrew M. ; Venter, J. Craig ; Karow, David S. ; Caskey, C. Thomas

Proceedings of the National Academy of Sciences - PNAS, 2020-02, Vol.117 (6), p.3053-3062 [Periódico revisado por pares]

United States: National Academy of Sciences

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5
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
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Identification of Misclassified ClinVar Variants via Disease Population Prevalence

Shah, Naisha ; Hou, Ying-Chen Claire ; Yu, Hung-Chun ; Sainger, Rachana ; Caskey, C. Thomas ; Venter, J. Craig ; Telenti, Amalio

American journal of human genetics, 2018-04, Vol.102 (4), p.609-619 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Schaaf, Christian P ; Gonzalez-Garay, Manuel L ; Xia, Fan ; Potocki, Lorraine ; Gripp, Karen W ; Zhang, Baili ; Peters, Brock A ; McElwain, Mark A ; Drmanac, Radoje ; Beaudet, Arthur L ; Caskey, C Thomas ; Yang, Yaping

Nature genetics, 2013-11, Vol.45 (11), p.1405-1408 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

Tang, Haibao ; Kirkness, Ewen F. ; Lippert, Christoph ; Biggs, William H. ; Fabani, Martin ; Guzman, Ernesto ; Ramakrishnan, Smriti ; Lavrenko, Victor ; Kakaradov, Boyko ; Hou, Claire ; Hicks, Barry ; Heckerman, David ; Och, Franz J. ; Caskey, C. Thomas ; Venter, J. Craig ; Telenti, Amalio

American journal of human genetics, 2017-11, Vol.101 (5), p.700-715 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
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Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

Mo, Zhongying ; Zhao, Xiaobei ; Liu, Huaqing ; Hu, Qinghua ; Chen, Xu-Qiao ; Pham, Jessica ; Wei, Na ; Liu, Ze ; Zhou, Jiadong ; Burgess, Robert W ; Pfaff, Samuel L ; Caskey, C Thomas ; Wu, Chengbiao ; Bai, Ge ; Yang, Xiang-Lei

Nature communications, 2018-03, Vol.9 (1), p.1007-11, Article 1007 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

Perkins, Bradley A. ; Caskey, C. Thomas ; Brar, Pamila ; Dec, Eric ; Karow, David S. ; Kahn, Andrew M. ; Hou, Ying-Chen Claire ; Shah, Naisha ; Boeldt, Debbie ; Coughlin, Erin ; Hands, Gabby ; Lavrenko, Victor ; Yu, James ; Procko, Andrea ; Appis, Julia ; Dale, Anders M. ; Guo, Lining ; Jönsson, Thomas J. ; Wittmann, Bryan M. ; Bartha, Istvan ; Ramakrishnan, Smriti ; Bernal, Axel ; Brewer, James B. ; Brewerton, Suzanne ; Biggs, William H. ; Turpaz, Yaron ; Venter, J. Craig

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (14), p.3686-3691 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
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Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

Guo, Lining ; Milburn, Michael V. ; Ryals, John A. ; Lonergan, Shaun C. ; Mitchell, Matthew W. ; Wulff, Jacob E. ; Alexander, Danny C. ; Evans, Anne M. ; Bridgewater, Brandi ; Miller, Luke ; Gonzalez-Garay, Manuel L. ; Caskey, C. Thomas

Proceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (35), p.E4901-E4910 [Periódico revisado por pares]

United States: National Academy of Sciences

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