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Human genetics of infectious diseases: between proof of principle and paradigm
Human genetics of infectious diseases: between proof of principle and paradigm
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Human genetics of infectious diseases: between proof of principle and paradigm

Alcaïs, Alexandre ; Abel, Laurent ; Casanova, Jean-Laurent

The Journal of clinical investigation, 2009-09, Vol.119 (9), p.2506-2514 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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2
A partial form of recessive STAT1 deficiency in humans
A partial form of recessive STAT1 deficiency in humans
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A partial form of recessive STAT1 deficiency in humans

Chapgier, Ariane ; Kong, Xiao-Fei ; Boisson-Dupuis, Stéphanie ; Jouanguy, Emmanuelle ; Averbuch, Diana ; Feinberg, Jacqueline ; Zhang, Shen-Ying ; Bustamante, Jacinta ; Vogt, Guillaume ; Lejeune, Julien ; Mayola, Eleonore ; de Beaucoudrey, Ludovic ; Abel, Laurent ; Engelhard, Dan ; Casanova, Jean-Laurent

The Journal of clinical investigation, 2009-06, Vol.119 (6), p.1502-1514 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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3
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
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A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

Bolze, Alexandre ; Abhyankar, Avinash ; Grant, Audrey V ; Patel, Bhavi ; Yadav, Ruchi ; Byun, Minji ; Caillez, Daniel ; Emile, Jean-Francois ; Pastor-Anglada, Marçal ; Abel, Laurent ; Puel, Anne ; Govindarajan, Rajgopal ; de Pontual, Loic ; Casanova, Jean-Laurent El-Maarri, Osman

PloS one, 2012-01, Vol.7 (1), p.e29708 [Periódico revisado por pares]

United States: Public Library of Science

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4
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
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A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

Kong, Xiao-Fei ; Bousfiha, Aziz ; Rouissi, Abdelfettah ; Itan, Yuval ; Abhyankar, Avinash ; Bryant, Vanessa ; Okada, Satoshi ; Ailal, Fatima ; Bustamante, Jacinta ; Casanova, Jean-Laurent ; Hirst, Jennifer ; Boisson-Dupuis, Stéphanie Nogales-Gadea, Gisela

PloS one, 2013-03, Vol.8 (3), p.e58286-e58286 [Periódico revisado por pares]

United States: Public Library of Science

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5
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
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A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

Mamoune, Asmaa ; Bahuau, Michel ; Hamel, Yamina ; Serre, Valérie ; Pelosi, Michele ; Habarou, Florence ; Nguyen Morel, Marie-Ange ; Boisson, Bertrand ; Vergnaud, Sabrina ; Viou, Mai Thao ; Nonnenmacher, Luc ; Piraud, Monique ; Nusbaum, Patrick ; Vamecq, Joseph ; Romero, Norma ; Ottolenghi, Chris ; Casanova, Jean-Laurent ; de Lonlay, Pascale Wilkie, Andrew O. M.

PLoS genetics, 2014-11, Vol.10 (11), p.e1004711 [Periódico revisado por pares]

United States: Public Library of Science

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6
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
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Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

Gineau, Laure ; Cognet, Céline ; Kara, Nihan ; Lach, Francis Peter ; Dunne, Jean ; Veturi, Uma ; Picard, Capucine ; Trouillet, Céline ; Eidenschenk, Céline ; Aoufouchi, Said ; Alcaïs, Alexandre ; Smith, Owen ; Geissmann, Frédéric ; Feighery, Conleth ; Abel, Laurent ; Smogorzewska, Agata ; Stillman, Bruce ; Vivier, Eric ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle

The Journal of clinical investigation, 2012-03, Vol.122 (3), p.821-832 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease
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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

Chapgier, Ariane ; Boisson-Dupuis, Stéphanie ; Jouanguy, Emmanuelle ; Vogt, Guillaume ; Feinberg, Jacqueline ; Prochnicka-Chalufour, Ada ; Casrouge, Armanda ; Yang, Kun ; Soudais, Claire ; Fieschi, Claire ; Santos, Orchidée Filipe ; Bustamante, Jacinta ; Picard, Capucine ; de Beaucoudrey, Ludovic ; Emile, Jean-François ; Arkwright, Peter D ; Schreiber, Robert D ; Rolinck-Werninghaus, Claudia ; Rösen-Wolff, Angela ; Magdorf, Klaus ; Roesler, Joachim ; Casanova, Jean-Laurent van Heyningen, Veronica

PLoS genetics, 2006-08, Vol.2 (8), p.e131-e131 [Periódico revisado por pares]

United States: Public Library of Science

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