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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
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PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Monroe, Tanner O ; Garrett, Melanie E ; Kousi, Maria ; Rodriguiz, Ramona M ; Moon, Sungjin ; Bai, Yushi ; Brodar, Steven C ; Soldano, Karen L ; Savage, Jeremiah ; Hansen, Thomas F ; Muzny, Donna M ; Gibbs, Richard A ; Barak, Lawrence ; Sullivan, Patrick F ; Ashley-Koch, Allison E ; Sawa, Akira ; Wetsel, William C ; Werge, Thomas ; Katsanis, Nicholas

Nature communications, 2020-11, Vol.11 (1), p.5903-5903, Article 5903 [Periódico revisado por pares]

England: Nature Publishing Group UK

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2
Targeted sequencing in candidate genes for atrial fibrillation: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study
Targeted sequencing in candidate genes for atrial fibrillation: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study
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Targeted sequencing in candidate genes for atrial fibrillation: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

Lin, Honghuang, PhD ; Sinner, Moritz F., MD, MPH ; Brody, Jennifer A., BA ; Arking, Dan E., PhD ; Lunetta, Kathryn L., PhD ; Rienstra, Michiel, MD, PhD ; Lubitz, Steven A., MD, MPH ; Magnani, Jared W., MD, MS ; Sotoodehnia, Nona, MD, MPH ; McKnight, Barbara, PhD ; McManus, David D., MD, ScM ; Boerwinkle, Eric, PhD ; Psaty, Bruce M., MD, PhD ; Rotter, Jerome I., MD ; Bis, Joshua C., PhD ; Gibbs, Richard A., PhD ; Muzny, Donna, MS ; Kovar, Christie L., BS ; Morrison, Alanna C., PhD ; Gupta, Mayetri, PhD ; Folsom, Aaron R., MD, MPH ; Kääb, Stefan, MD, PhD ; Heckbert, Susan R., MD, PhD ; Alonso, Alvaro, MD, PhD ; Ellinor, Patrick T., MD, PhD ; Benjamin, Emelia J., MD, ScM

Heart rhythm, 2014-03, Vol.11 (3), p.452-457 [Periódico revisado por pares]

United States: Elsevier Inc

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3
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Laine, Christine M ; Joeng, Kyu Sang ; Campeau, Philippe M ; Kiviranta, Riku ; Tarkkonen, Kati ; Grover, Monica ; Lu, James T ; Pekkinen, Minna ; Wessman, Maija ; Heino, Terhi J ; Nieminen-Pihala, Vappu ; Aronen, Mira ; Laine, Tero ; Kröger, Heikki ; Cole, William G ; Lehesjoki, Anna-Elina ; Nevarez, Lisette ; Krakow, Deborah ; Curry, Cynthia J.R ; Cohn, Daniel H ; Gibbs, Richard A ; Lee, Brendan H ; Mäkitie, Outi

The New England journal of medicine, 2013-05, Vol.368 (19), p.1809-1816 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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4
Germline mutations in shelterin complex genes are associated with familial glioma
Germline mutations in shelterin complex genes are associated with familial glioma
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Germline mutations in shelterin complex genes are associated with familial glioma

Bainbridge, Matthew N ; Armstrong, Georgina N ; Gramatges, M Monica ; Bertuch, Alison A ; Jhangiani, Shalini N ; Doddapaneni, Harsha ; Lewis, Lora ; Tombrello, Joseph ; Tsavachidis, Spyros ; Liu, Yanhong ; Jalali, Ali ; Plon, Sharon E ; Lau, Ching C ; Parsons, Donald W ; Claus, Elizabeth B ; Barnholtz-Sloan, Jill ; Il'yasova, Dora ; Schildkraut, Joellen ; Ali-Osman, Francis ; Sadetzki, Siegal ; Johansen, Christoffer ; Houlston, Richard S ; Jenkins, Robert B ; Lachance, Daniel ; Olson, Sara H ; Bernstein, Jonine L ; Merrell, Ryan T ; Wrensch, Margaret R ; Walsh, Kyle M ; Davis, Faith G ; Lai, Rose ; Shete, Sanjay ; Aldape, Kenneth ; Amos, Christopher I ; Thompson, Patricia A ; Muzny, Donna M ; Gibbs, Richard A ; Melin, Beatrice S ; Bondy, Melissa L

JNCI : Journal of the National Cancer Institute, 2015-01, Vol.107 (1), p.384-384 [Periódico revisado por pares]

United States: Oxford Publishing Limited (England)

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5
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
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Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, James R ; Reid, Jeffrey G ; Gonzaga-Jauregui, Claudia ; Rio Deiros, David ; Chen, David C.Y ; Nazareth, Lynne ; Bainbridge, Matthew ; Dinh, Huyen ; Jing, Chyn ; Wheeler, David A ; McGuire, Amy L ; Zhang, Feng ; Stankiewicz, Pawel ; Halperin, John J ; Yang, Chengyong ; Gehman, Curtis ; Guo, Danwei ; Irikat, Rola K ; Tom, Warren ; Fantin, Nick J ; Muzny, Donna M ; Gibbs, Richard A

The New England journal of medicine, 2010-04, Vol.362 (13), p.1181-1191 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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6
Whole-Exome Sequencing in Familial Parkinson Disease
Whole-Exome Sequencing in Familial Parkinson Disease
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Whole-Exome Sequencing in Familial Parkinson Disease

Farlow, Janice L ; Robak, Laurie A ; Hetrick, Kurt ; Bowling, Kevin ; Boerwinkle, Eric ; Coban-Akdemir, Zeynep H ; Gambin, Tomasz ; Gibbs, Richard A ; Gu, Shen ; Jain, Preti ; Jankovic, Joseph ; Jhangiani, Shalini ; Kaw, Kaveeta ; Lai, Dongbing ; Lin, Hai ; Ling, Hua ; Liu, Yunlong ; Lupski, James R ; Muzny, Donna ; Porter, Paula ; Pugh, Elizabeth ; White, Janson ; Doheny, Kimberly ; Myers, Richard M ; Shulman, Joshua M ; Foroud, Tatiana

JAMA neurology, 2016-01, Vol.73 (1), p.1-8 [Periódico revisado por pares]

United States: American Medical Association

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7
Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction
Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction
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Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction

Miszalski-Jamka, Karol ; Jefferies, John L ; Mazur, Wojciech ; Głowacki, Jan ; Hu, Jianhong ; Lazar, Monika ; Gibbs, Richard A ; Liczko, Jacek ; Kłyś, Jan ; Venner, Eric ; Muzny, Donna M ; Rycaj, Jarosław ; Białkowski, Jacek ; Kluczewska, Ewa ; Kalarus, Zbigniew ; Jhangiani, Shalini ; Al-Khalidi, Hussein ; Kukulski, Tomasz ; Lupski, James R ; Craigen, William J ; Bainbridge, Matthew N

Circulation. Cardiovascular genetics, 2017-08, Vol.10 (4), p.e001763-e001763 [Periódico revisado por pares]

United States: American Heart Association, Inc

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8
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
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Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura

Lotta, Luca A. ; Wu, Haifeng M. ; Mackie, Ian J. ; Noris, Marina ; Veyradier, Agnes ; Scully, Marie A. ; Remuzzi, Giuseppe ; Coppo, Paul ; Liesner, Ri ; Donadelli, Roberta ; Loirat, Chantal ; Gibbs, Richard A. ; Horne, April ; Yang, Shangbin ; Garagiola, Isabella ; Musallam, Khaled M. ; Peyvandi, Flora

Blood, 2012-07, Vol.120 (2), p.440-448 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Whole Exome Sequencing in Atrial Fibrillation
Whole Exome Sequencing in Atrial Fibrillation
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Whole Exome Sequencing in Atrial Fibrillation

Lubitz, Steven A ; Brody, Jennifer A ; Bihlmeyer, Nathan A ; Roselli, Carolina ; Weng, Lu-Chen ; Christophersen, Ingrid E ; Alonso, Alvaro ; Boerwinkle, Eric ; Gibbs, Richard A ; Bis, Joshua C ; Cupples, L Adrienne ; Mohler, Peter J ; Nickerson, Deborah A ; Muzny, Donna ; Perez, Marco V ; Psaty, Bruce M ; Soliman, Elsayed Z ; Sotoodehnia, Nona ; Lunetta, Kathryn L ; Benjamin, Emelia J ; Heckbert, Susan R ; Arking, Dan E ; Ellinor, Patrick T ; Lin, Honghuang Loos, Ruth J F

PLoS genetics, 2016-09, Vol.12 (9), p.e1006284-e1006284 [Periódico revisado por pares]

United States: Public Library of Science

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10
Coronary Heart Disease and Genetic Variants with Low Phospholipase A2 Activity
Coronary Heart Disease and Genetic Variants with Low Phospholipase A2 Activity
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Coronary Heart Disease and Genetic Variants with Low Phospholipase A2 Activity

Polfus, Linda M ; Gibbs, Richard A ; Boerwinkle, Eric

The New England journal of medicine, 2015-01, Vol.372 (3), p.295-296 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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