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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover assunto: Mutation remover
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1
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
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Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Lambotte, Olivier ; Neven, Bénédicte ; Galicier, Lionel ; Magerus-Chatinet, Aude ; Schleinitz, Nicolas ; Hermine, Olivier ; Meyts, Isabelle ; Picard, Capucine ; Godeau, Bertrand ; Fischer, Alain ; Rieux-Laucat, Frédéric

Haematologica (Roma), 2013-03, Vol.98 (3), p.389-392 [Periódico revisado por pares]

Italy: Ferrata Storti Foundation

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2
Arabidopsis MORC proteins function in the efficient establishment of RNA directed DNA methylation
Arabidopsis MORC proteins function in the efficient establishment of RNA directed DNA methylation
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Arabidopsis MORC proteins function in the efficient establishment of RNA directed DNA methylation

Xue, Yan ; Zhong, Zhenhui ; Harris, C Jake ; Gallego-Bartolomé, Javier ; Wang, Ming ; Picard, Colette ; Cao, Xueshi ; Hua, Shan ; Kwok, Ivy ; Feng, Suhua ; Jami-Alahmadi, Yasaman ; Sha, Jihui ; Gardiner, Jason ; Wohlschlegel, James ; Jacobsen, Steven E

Nature communications, 2021-07, Vol.12 (1), p.4292-4292, Article 4292 [Periódico revisado por pares]

England: Nature Publishing Group

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3
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
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NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood

Bardet, Juliette ; Laverdure, Noémie ; Fusaro, Mathieu ; Picard, Capucine ; Garnier, Lorna ; Viel, Sébastien ; Collardeau-Frachon, Sophie ; Guillebon, Jean-Marie De ; Durieu, Isabelle ; Casari-Thery, Clémence ; Mortamet, Guillaume ; Laurent, Audrey ; Belot, Alexandre

Journal of clinical medicine, 2021-09, Vol.10 (19), p.4369 [Periódico revisado por pares]

Basel: MDPI AG

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4
Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France
Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France
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Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France

Pedini, Pascal ; Filosa, Lugdivine ; Bichel, Nelly ; Picard, Christophe ; Silvy, Monique ; Chiaroni, Jacques ; Izard, Caroline ; Laget, Laurine ; Mazières, Stéphane

Genes, 2022-06, Vol.13 (6), p.1058 [Periódico revisado por pares]

Basel: MDPI AG

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5
Regulation of cardiac hypertrophy in vivo by the stress-activated protein kinases/c-Jun NH(2)-terminal kinases
Regulation of cardiac hypertrophy in vivo by the stress-activated protein kinases/c-Jun NH(2)-terminal kinases
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Regulation of cardiac hypertrophy in vivo by the stress-activated protein kinases/c-Jun NH(2)-terminal kinases

Choukroun, G ; Hajjar, R ; Fry, S ; del Monte, F ; Haq, S ; Guerrero, J L ; Picard, M ; Rosenzweig, A ; Force, T

The Journal of clinical investigation, 1999-08, Vol.104 (4), p.391-398 [Periódico revisado por pares]

United States

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6
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hadjadj, Jérôme ; Castro, Carla Noemi ; Tusseau, Maud ; Stolzenberg, Marie-Claude ; Mazerolles, Fabienne ; Aladjidi, Nathalie ; Armstrong, Martin ; Ashrafian, Houman ; Cutcutache, Ioana ; Ebetsberger-Dachs, Georg ; Elliott, Katherine S. ; Durieu, Isabelle ; Fabien, Nicole ; Fusaro, Mathieu ; Heeg, Maximilian ; Schmitt, Yohan ; Bras, Marc ; Knight, Julian C. ; Lega, Jean-Christophe ; Lesca, Gaetan ; Mathieu, Anne-Laure ; Moreews, Marion ; Moreira, Baptiste ; Nosbaum, Audrey ; Page, Matthew ; Picard, Cécile ; Ronan Leahy, T. ; Rouvet, Isabelle ; Ryan, Ethel ; Sanlaville, Damien ; Schwarz, Klaus ; Skelton, Andrew ; Viallard, Jean-Francois ; Viel, Sebastien ; Villard, Marine ; Callebaut, Isabelle ; Picard, Capucine ; Walzer, Thierry ; Ehl, Stephan ; Fischer, Alain ; Neven, Bénédicte ; Belot, Alexandre ; Rieux-Laucat, Frédéric

Nature communications, 2020-10, Vol.11 (1), p.5341-5341, Article 5341 [Periódico revisado por pares]

London: Nature Publishing Group

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7
The Hsp70-Hsp90 co-chaperone Hop/Stip1 shifts the proteostatic balance from folding towards degradation
The Hsp70-Hsp90 co-chaperone Hop/Stip1 shifts the proteostatic balance from folding towards degradation
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The Hsp70-Hsp90 co-chaperone Hop/Stip1 shifts the proteostatic balance from folding towards degradation

Bhattacharya, Kaushik ; Weidenauer, Lorenz ; Luengo, Tania Morán ; Pieters, Ellis C ; Echeverría, Pablo C ; Bernasconi, Lilia ; Wider, Diana ; Sadian, Yashar ; Koopman, Margreet B ; Villemin, Matthieu ; Bauer, Christoph ; Rüdiger, Stefan G D ; Quadroni, Manfredo ; Picard, Didier

Nature communications, 2020-11, Vol.11 (1), p.5975-21, Article 5975 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Immune diversity sheds light on missing variation in worldwide genetic diversity panels
Immune diversity sheds light on missing variation in worldwide genetic diversity panels
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Immune diversity sheds light on missing variation in worldwide genetic diversity panels

Abi-Rached, Laurent ; Gouret, Philippe ; Yeh, Jung-Hua ; Di Cristofaro, Julie ; Pontarotti, Pierre ; Picard, Christophe ; Paganini, Julien DeAngelis, Margaret M

PloS one, 2018-10, Vol.13 (10), p.e0206512-e0206512 [Periódico revisado por pares]

United States: Public Library of Science

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9
The molecular chaperone Hsp90α is required for meiotic progression of spermatocytes beyond pachytene in the mouse
The molecular chaperone Hsp90α is required for meiotic progression of spermatocytes beyond pachytene in the mouse
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The molecular chaperone Hsp90α is required for meiotic progression of spermatocytes beyond pachytene in the mouse

Grad, Iwona ; Cederroth, Christopher R ; Walicki, Joël ; Grey, Corinne ; Barluenga, Sofia ; Winssinger, Nicolas ; De Massy, Bernard ; Nef, Serge ; Picard, Didier Rutherford, Suzannah

PloS one, 2010-12, Vol.5 (12), p.e15770-e15770 [Periódico revisado por pares]

United States: Public Library of Science

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10
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
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Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study

Legoupil, S ; Bessis, D ; Picard, F ; Mallet, S ; Mazereeuw, J ; Phan, A ; Dupin-Deguine, D ; Kalamarides, M ; Chiaverini, C

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-242, Article 242 [Periódico revisado por pares]

London: BioMed Central Ltd

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