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1
Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants
Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants
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Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants

Chachoua, Ilyas ; Pecquet, Christian ; El-Khoury, Mira ; Nivarthi, Harini ; Albu, Roxana-Irina ; Marty, Caroline ; Gryshkova, Vitalina ; Defour, Jean-Philippe ; Vertenoeil, Gaëlle ; Ngo, Anna ; Koay, Ann ; Raslova, Hana ; Courtoy, Pierre J. ; Choong, Meng Ling ; Plo, Isabelle ; Vainchenker, William ; Kralovics, Robert ; Constantinescu, Stefan N.

Blood, 2016-03, Vol.127 (10), p.1325-1335 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O'Roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Roie ; O'Day, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichler, Evan E. ; Shendure, Jay

Science (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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3
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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4
Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator
Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator
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Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator

Gonzalo-Asensio, Jesús ; Malaga, Wladimir ; Pawlik, Alexandre ; Astarie-Dequeker, Catherine ; Passemar, Charlotte ; Moreau, Flavie ; Laval, Françoise ; Daffé, Mamadou ; Martin, Carlos ; Brosch, Roland ; Guilhot, Christophe

Proceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11491-11496 [Periódico revisado por pares]

United States: National Academy of Sciences

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5
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells
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The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells

Zhang, Jenny ; Jima, Dereje ; Moffitt, Andrea B. ; Liu, Qingquan ; Czader, Magdalena ; Hsi, Eric D. ; Fedoriw, Yuri ; Dunphy, Cherie H. ; Richards, Kristy L. ; Gill, Javed I. ; Sun, Zhen ; Love, Cassandra ; Scotland, Paula ; Lock, Eric ; Levy, Shawn ; Hsu, David S. ; Dunson, David ; Dave, Sandeep S.

Blood, 2014-05, Vol.123 (19), p.2988-2996 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH
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Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH

Prasad, Hari ; Rao, Rajini

Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.E6640-E6649 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Sykiotis, Gerasimos P. ; Plummer, Lacey ; Hughes, Virginia A. ; Au, Margaret ; Durrani, Sadia ; Nayak-Young, Sadhana ; Dwyer, Andrew A. ; Quinton, Richard ; Hall, Janet E. ; Gusella, James F. ; Seminara, Stephanie B. ; Crowley, William F. ; Pitteloud, Nelly ; Donahoe, Patricia K.

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Genome-Wide Analysis Uncovers Regulation of Long Intergenic Noncoding RNAs in Arabidopsis
Genome-Wide Analysis Uncovers Regulation of Long Intergenic Noncoding RNAs in Arabidopsis
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Genome-Wide Analysis Uncovers Regulation of Long Intergenic Noncoding RNAs in Arabidopsis

Liu, Jun ; Jung, Choonkyun ; Xu, Jun ; Wang, Huan ; Deng, Shulin ; Bernad, Lucia ; Arenas-Huertero, Catalina ; Chua, Nam-Hai

The Plant cell, 2012-11, Vol.24 (11), p.4333-4345 [Periódico revisado por pares]

United States: American Society of Plant Biologists

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9
Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
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Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms

Vainchenker, William ; Kralovics, Robert

Blood, 2017-02, Vol.129 (6), p.667-679 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker
Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker
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Large Variation in the Ratio of Mitochondrial to Nuclear Mutation Rate across Animals: Implications for Genetic Diversity and the Use of Mitochondrial DNA as a Molecular Marker

Allio, Remi ; Donega, Stefano ; Galtier, Nicolas ; Nabholz, Benoit

Molecular biology and evolution, 2017-11, Vol.34 (11), p.2762-2772 [Periódico revisado por pares]

United States: Oxford University Press (OUP)

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