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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
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

Launay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura ; Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Schlüter, Agatha ; Goicoechea, Leire ; Guilera, Cristina ; Casas, Josefina ; Campelo, Felix ; Jouanguy, Emmanuelle ; Casanova, Jean-Laurent ; Boespflug-Tanguy, Odile ; Vazquez Cancela, Maria ; Gutiérrez-Solana, Luis González ; Casasnovas, Carlos ; Area-Gomez, Estela ; Pujol, Aurora

The Journal of clinical investigation, 2023-07, Vol.133 (14) [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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3
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Crequer, Amandine ; Picard, Capucine ; Patin, Etienne ; D'Amico, Aurelia ; Abhyankar, Avinash ; Munzer, Martine ; Debré, Marianne ; Zhang, Shen-Ying ; de Saint-Basile, Geneviève ; Fischer, Alain ; Abel, Laurent ; Orth, Gérard ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle Wurfel, Mark M.

PloS one, 2012-08, Vol.7 (8), p.e44010-e44010 [Periódico revisado por pares]

United States: Public Library of Science

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4
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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5
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
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Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Bucciol, Giorgia ; Moens, Leen ; Ogishi, Masato ; Rinchai, Darawan ; Matuozzo, Daniela ; Momenilandi, Mana ; Kerrouche, Nacim ; Cale, Catherine M ; Treffeisen, Elsa R ; Al Salamah, Mohammad ; Al-Saud, Bandar K ; Lachaux, Alain ; Duclaux-Loras, Remi ; Meignien, Marie ; Bousfiha, Aziz ; Benhsaien, Ibtihal ; Shcherbina, Anna ; Roppelt, Anna ; Gothe, Florian ; Houhou-Fidouh, Nadhira ; Hackett, Scott J ; Bartnikas, Lisa M ; Maciag, Michelle C ; Alosaimi, Mohammed F ; Chou, Janet ; Mohammed, Reem W ; Freij, Bishara J ; Jouanguy, Emmanuelle ; Zhang, Shen-Ying ; Boisson-Dupuis, Stephanie ; Béziat, Vivien ; Zhang, Qian ; Duncan, Christopher Ja ; Hambleton, Sophie ; Casanova, Jean-Laurent ; Meyts, Isabelle

The Journal of clinical investigation, 2023-06, Vol.133 (12) [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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6
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations
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Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations

Quistrebert, Jocelyn ; Orlova, Marianna ; Kerner, Gaspard ; Ton, Le Thi ; Luong, Nguyễn Trong ; Danh, Nguyễn Thanh ; Vincent, Quentin B ; Jabot-Hanin, Fabienne ; Seeleuthner, Yoann ; Bustamante, Jacinta ; Boisson-Dupuis, Stéphanie ; Huong, Nguyen Thu ; Ba, Nguyen Ngoc ; Casanova, Jean-Laurent ; Delacourt, Christophe ; Hoal, Eileen G ; Alcaïs, Alexandre ; Thai, Vu Hong ; Thành, Lai The ; Abel, Laurent ; Schurr, Erwin ; Cobat, Aurélie Stein, Cathy

PLoS genetics, 2021-03, Vol.17 (3), p.e1009392-e1009392 [Periódico revisado por pares]

United States: Public Library of Science

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7
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Maffucci, Patrick ; Chavez, Jose ; Jurkiw, Thomas J ; O'Brien, Patrick J ; Abbott, Jordan K ; Reynolds, Paul R ; Worth, Austen ; Notarangelo, Luigi D ; Felgentreff, Kerstin ; Cortes, Patricia ; Boisson, Bertrand ; Radigan, Lin ; Cobat, Aurélie ; Dinakar, Chitra ; Ehlayel, Mohammad ; Ben-Omran, Tawfeg ; Gelfand, Erwin W ; Casanova, Jean-Laurent ; Cunningham-Rundles, Charlotte

The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5489-5504 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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8
A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review
A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review
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A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

AlKhater, Suzan A. ; Deswarte, Caroline ; Casanova, Jean‐Laurent ; Bustamante, Jacinta

Molecular genetics & genomic medicine, 2020-06, Vol.8 (6), p.e1237-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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9
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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10
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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