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Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector : Short-Term Results of a Phase I Trial
Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector : Short-Term Results of a Phase I Trial
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Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector : Short-Term Results of a Phase I Trial

HAUSWIRTH, William W ; ALEMAN, Tomas S ; JACOBSON, Samuel G ; KAUSHAL, Shalesh ; CIDECIYAN, Artur V ; SCHWARTZ, Sharon B ; LILI WANG ; CONLON, Thomas J ; BOYE, Sanford L ; FLOTTE, Terence R ; BYRNE, Barry J

Human gene therapy, 2008-10, Vol.19 (10), p.979-990 [Periódico revisado por pares]

Larchmont, NY: Liebert

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2
Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
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Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Zhang, Yu, PhD ; Yu, Xiaomin, PhD ; Ichikawa, Mie, BSc ; Lyons, Jonathan J., MD ; Datta, Shrimati, PhD ; Lamborn, Ian T., BSc ; Jing, Huie, PhD ; Kim, Emily S., BSc ; Biancalana, Matthew, BSc ; Wolfe, Lynne A., CRNP ; DiMaggio, Thomas, ADN ; Matthews, Helen F., BSN ; Kranick, Sarah M., MD ; Stone, Kelly D., MD, PhD ; Holland, Steven M., MD ; Reich, Daniel S., MD, PhD ; Hughes, Jason D., PhD ; Mehmet, Huseyin, PhD ; McElwee, Joshua, PhD ; Freeman, Alexandra F., MD ; Freeze, Hudson H., PhD ; Su, Helen C., MD, PhD ; Milner, Joshua D., MD

Journal of allergy and clinical immunology, 2014-05, Vol.133 (5), p.1400-1409.e5 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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3
Rare inherited kidney diseases: challenges, opportunities, and perspectives
Rare inherited kidney diseases: challenges, opportunities, and perspectives
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Rare inherited kidney diseases: challenges, opportunities, and perspectives

Devuyst, Olivier, Prof ; Knoers, Nine V A M, Prof ; Remuzzi, Giuseppe, Prof ; Schaefer, Franz, Prof

The Lancet (British edition), 2014-05, Vol.383 (9931), p.1844-1859 [Periódico revisado por pares]

Kidlington: Elsevier Ltd

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4
Hypomorphic homozygous mutations in phosphoglucomutase 3 ( PGM3 ) impair immunity and increase serum IgE levels
Hypomorphic homozygous mutations in phosphoglucomutase 3 ( PGM3 ) impair immunity and increase serum IgE levels
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Hypomorphic homozygous mutations in phosphoglucomutase 3 ( PGM3 ) impair immunity and increase serum IgE levels

Sassi, Atfa, PhD ; Lazaroski, Sandra, PhD ; Wu, Gang, MSc ; Haslam, Stuart M., PhD ; Fliegauf, Manfred, PhD ; Mellouli, Fethi, MD ; Patiroglu, Turkan, MD ; Unal, Ekrem, MD ; Ozdemir, Mehmet Akif, MD ; Jouhadi, Zineb, MD ; Khadir, Khadija, MD ; Ben-Khemis, Leila, MSc ; Ben-Ali, Meriem, PhD ; Ben-Mustapha, Imen, MD ; Borchani, Lamia, PhD ; Pfeifer, Dietmar, PhD ; Jakob, Thilo, MD ; Khemiri, Monia, MD ; Asplund, A. Charlotta, BSc ; Gustafsson, Manuela O., MSc ; Lundin, Karin E., PhD ; Falk-Sörqvist, Elin, MSc ; Moens, Lotte N., PhD ; Gungor, Hatice Eke, MD ; Engelhardt, Karin R., PhD ; Dziadzio, Magdalena, MD, PhD ; Stauss, Hans, MD, PhD ; Fleckenstein, Bernhard, MD ; Meier, Rebecca, BSc ; Prayitno, Khairunnadiya, MSc ; Maul-Pavicic, Andrea, PhD ; Schaffer, Sandra ; Rakhmanov, Mirzokhid, PhD ; Henneke, Philipp, MD ; Kraus, Helene, MSc ; Eibel, Hermann, PhD ; Kölsch, Uwe, MD ; Nadifi, Sellama, PhD ; Nilsson, Mats, PhD ; Bejaoui, Mohamed, MD ; Schäffer, Alejandro A., PhD ; Smith, C.I. Edvard, MD, PhD ; Dell, Anne, PhD ; Barbouche, Mohamed-Ridha, MD, PhD ; Grimbacher, Bodo, MD

Journal of allergy and clinical immunology, 2014-05, Vol.133 (5), p.1410-1419.e13 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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5
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Abdel-Rahman, Mohamed H ; Pilarski, Robert ; Cebulla, Colleen M ; Massengill, James B ; Christopher, Benjamin N ; Boru, Getachew ; Hovland, Peter ; Davidorf, Frederick H

Journal of medical genetics, 2011-12, Vol.48 (12), p.856-859 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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6
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yang, Yaping ; Muzny, Donna M ; Reid, Jeffrey G ; Bainbridge, Matthew N ; Willis, Alecia ; Ward, Patricia A ; Braxton, Alicia ; Beuten, Joke ; Xia, Fan ; Niu, Zhiyv ; Hardison, Matthew ; Person, Richard ; Bekheirnia, Mir Reza ; Leduc, Magalie S ; Kirby, Amelia ; Pham, Peter ; Scull, Jennifer ; Wang, Min ; Ding, Yan ; Plon, Sharon E ; Lupski, James R ; Beaudet, Arthur L ; Gibbs, Richard A ; Eng, Christine M

The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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7
PTC124 targets genetic disorders caused by nonsense mutations
PTC124 targets genetic disorders caused by nonsense mutations
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PTC124 targets genetic disorders caused by nonsense mutations

Chen, Guangming ; Jacobson, Allan ; Spatrick, Phyllis ; Peltz, Stuart W ; Conn, M. Morgan ; Friesen, Westley J ; Almstead, Neil G ; Hedrick, Jean ; Campbell, Jeffrey A ; Mollin, Anna ; Kawana, Masataka ; Wilde, Richard G ; Yeh, Shirley ; Sweeney, H. Lee ; Trotta, Christopher R ; Khan, Atiyya ; Welch, Ellen M ; Barton, Elisabeth R ; Hirawat, Samit ; Turpoff, Anthony A ; Weetall, Marla ; Ren, Hongyu ; Risher, Nicole ; Tomizawa, Yuki ; Northcutt, Valerie J ; Miller, Langdon L ; He, Feng ; Jones, Stephen ; Colacino, Joseph M ; Feng, Huisheng ; Branstrom, Arthur A ; Corson, Donald ; Zhuo, Jin ; Ju, William D ; Patel, Meenal ; Moon, Young-Choon ; Hwang, Seongwoo ; Paushkin, Sergey ; Babiak, John ; Trifillis, Panayiota ; Karp, Gary ; Takasugi, James

Nature, 2007-05, Vol.447 (7140), p.87-91 [Periódico revisado por pares]

London: Nature Publishing

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8
Clinical application of exome sequencing in undiagnosed genetic conditions
Clinical application of exome sequencing in undiagnosed genetic conditions
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Clinical application of exome sequencing in undiagnosed genetic conditions

Need, Anna C ; Shashi, Vandana ; Hitomi, Yuki ; Schoch, Kelly ; Shianna, Kevin V ; McDonald, Marie T ; Meisler, Miriam H ; Goldstein, David B

Journal of medical genetics, 2012-06, Vol.49 (6), p.353-361 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Hereditary Pulmonary Alveolar Proteinosis: Pathogenesis, Presentation, Diagnosis, and Therapy
Hereditary Pulmonary Alveolar Proteinosis: Pathogenesis, Presentation, Diagnosis, and Therapy
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Hereditary Pulmonary Alveolar Proteinosis: Pathogenesis, Presentation, Diagnosis, and Therapy

SUZUKI, Takuji ; SAKAGAMI, Takuro ; WHITSETT, Jeffrey A ; STEVENS, Carrie ; NOGEE, Lawrence M ; CAMPO, Ilaria ; TRAPNELL, Bruce C ; YOUNG, Lisa R ; CAREY, Brenna C ; WOOD, Robert E ; LUISETTI, Maurizio ; WERT, Susan E ; RUBIN, Bruce K ; KEVILL, Katharine ; CHALK, Claudia

American journal of respiratory and critical care medicine, 2010-11, Vol.182 (10), p.1292-1304 [Periódico revisado por pares]

New York, NY: American Thoracic Society

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10
Acute Aortic Dissection Clinician Update
Acute Aortic Dissection Clinician Update
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Acute Aortic Dissection Clinician Update

BRAVERMAN, Alan C

Circulation (New York, N.Y.), 2010-07, Vol.122 (2), p.184-188 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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