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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Lange, Leslie A. ; Schmidt, Ellen M. ; Bizon, Chris ; Jun, Goo ; Auer, Paul ; Li, Kuo-ping ; Locke, Adam ; Rivas, Manuel A. ; Feitosa, Mary F. ; Zhang, Qunyuan ; Huffman, Jennifer E. ; Crosby, Jacy ; Robinson, Jennifer G. ; Crosslin, David R. ; Rosenthal, Elisabeth A. ; Tsai, Michael ; Rieder, Mark J. ; Fox, Ervin R. ; van Duijn, Cornelia M. ; Taylor, Herman A. ; Loos, Ruth J.F. ; Ballantyne, Christie M. ; Reiner, Alexander P. ; Cupples, L. Adrienne ; Kang, Hyun Min ; Lettre, Guillaume ; Rader, Daniel J. ; Reilly, Muredach P. ; Stoletzki, Nina ; Barr, R. Graham ; Benjamin, Emelia J. ; Carr, Jeff ; Dupuis, Josée ; Ellis, Jaclyn ; Fornage, Myriam ; Goff, David ; Grody, Wayne ; Heard-Costa, Nancy L. ; Levy, Daniel ; Li, Dalin ; Loria, Cay ; Mackey, Rachel ; Quinlan, Aaron R. ; Rice, Kenneth ; Sanders, Jill P. ; Tracy, Russell P. ; Tsai, Michael Y. ; Wassel, Chrstina L. ; Watson, Karol ; Wilson, Gregory ; Wilson, James G. ; Zakai, Neil A. ; Nalls, Michael ; Bamshad, Michael J. ; Accurso, Frank ; Beaty, Terri ; Caplan, Daniel ; Chidekel, Aaron ; Christiani, David C. ; De Paula, Alicia ; Gutierrez, Hector ; Hassoun, Paul M. ; Hiatt, Peter ; Hummer, Laura K. ; Kim, Yoonhee ; Lin, Xihong ; Louie, Tin L. ; Mathias, Rasika A. ; McNamara, John ; McNamara, Sharon ; Nielson, Dennis ; Orenstein, David ; O’Sullivan, Brian ; Passero, Mary Ann ; Perkett, Elizabeth ; Spencer, Terry ; Tabor, Holly K. ; Weiss, Robert ; Wigley, Fred ; Wise, Robert A. ; Wurfel, Mark M. ; Eichler, Evan E. ; Fu, Wenqing ; Smith, Joshua D. ; Tennessen, Jacob A. ; Peters, Ulrike ; Brzyski, Robert ; Curb, J. David ; Eaton, Charles B. ; Heiss, Gerardo ; Johnson, Karen C. ; Lasser, Norman ; Lin, Dan-Yu ; Logsdon, Benjamin A. ; Manson, JoAnn E. ; Martin, Lisa ; Stein, Evan ; Applebaum-Bowden, Deborah ; Paltoo, Dina N. ; Sturcke, Anne

American journal of human genetics, 2014-02, Vol.94 (2), p.233-245 [Periódico revisado por pares]

United States: Elsevier Inc

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2
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young Erin

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Tompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.

American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
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Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Rosenthal, Elisabeth A. ; Ranchalis, Jane ; Crosslin, David R. ; Burt, Amber ; Brunzell, John D. ; Motulsky, Arno G. ; Nickerson, Deborah A. ; Wijsman, Ellen M. ; Jarvik, Gail P.

American journal of human genetics, 2013-12, Vol.93 (6), p.1035-1045 [Periódico revisado por pares]

United States: Elsevier Inc

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5
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, Jung-Hyun ; Shinde, Deepali N ; Reijnders, Margot RF ; Hauser, Natalie S ; Belmonte, Rebecca L ; Wilson, Gregory R ; Bosch, Daniëlle GM ; Bubulya, Paula A ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K ; Park, Eun Young ; Veltman, Joris A ; Sinnema, Margje ; Stumpel, Connie TRM ; Draaisma, Jos M ; Nicolai, Joost ; Genomics, University of Washington Center for Mendelian ; Yntema, Helger G ; Lindstrom, Kristin ; de Vries, Bert BA ; Jewett, Tamison ; Santoro, Stephanie L ; Vogt, Julie ; Study, Deciphering Developmental Disorders ; Bachman, Kristine K ; Seeley, Andrea H ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander PA ; Stevens, Servi JC ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G ; Brunner, Han G ; Mancini, Grazia M ; Myers, Richard M ; Owen, Laurie B ; Lim, Ssang-Taek ; Stachura, David L ; Vissers, Lisenka ELM ; Ahn, Eun-Young Erin

American Journal of Human Genetics, 2016-09, Vol.99 (3), p.711-719

eScholarship, University of California

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