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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
Diagnostic Clinical Genome and Exome Sequencing
Diagnostic Clinical Genome and Exome Sequencing
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Diagnostic Clinical Genome and Exome Sequencing

Biesecker, Leslie G ; Green, Robert C

The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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6
Pathophysiology and management of inherited bone marrow failure syndromes
Pathophysiology and management of inherited bone marrow failure syndromes
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Pathophysiology and management of inherited bone marrow failure syndromes

Shimamura, Akiko ; Alter, Blanche P

Blood reviews, 2010-05, Vol.24 (3), p.101-122 [Periódico revisado por pares]

Oxford: Elsevier Ltd

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7
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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8
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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9
Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer
Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer
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Succinate Dehydrogenase Kidney Cancer: An Aggressive Example of the Warburg Effect in Cancer

Ricketts, Christopher J ; Shuch, Brian ; Vocke, Cathy D ; Metwalli, Adam R ; Bratslavsky, Gennady ; Middelton, Lindsay ; Yang, Youfeng ; Wei, Ming-Hui ; Pautler, Stephen E ; Peterson, James ; Stolle, Catherine A ; Zbar, Berton ; Merino, Maria J ; Schmidt, Laura S ; Pinto, Peter A ; Srinivasan, Ramaprasad ; Pacak, Karel ; Linehan, W. Marston

The Journal of urology, 2012-12, Vol.188 (6), p.2063-2071 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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10
Survival in Patients With Idiopathic, Familial, and Anorexigen-Associated Pulmonary Arterial Hypertension in the Modern Management Era
Survival in Patients With Idiopathic, Familial, and Anorexigen-Associated Pulmonary Arterial Hypertension in the Modern Management Era
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Survival in Patients With Idiopathic, Familial, and Anorexigen-Associated Pulmonary Arterial Hypertension in the Modern Management Era

HUMBERT, Marc ; SITBON, Olivier ; DROMER, Claire ; PISON, Christophe ; REYNAUD-GAUBERT, Martine ; HALOUN, Alain ; LAURENT, Marcel ; HACHULLA, Eric ; COTTIN, Vincent ; DEGANO, Bruno ; JAÏS, Xavier ; MONTANI, David ; CHAOUAT, Ari ; SOUZA, Rogério ; SIMONNEAU, Gérald ; BERTOCCHI, Michèle ; HABIB, Gilbert ; GRESSIN, Virginie ; YAÏCI, Azzedine ; WEITZENBLUM, Emmanuel ; CORDIER, Jean-François ; CHABOT, François

Circulation (New York, N.Y.), 2010-07, Vol.122 (2), p.156-163 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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