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Benedetta RUZZENENTE, Arnold Munnich, Agnès Rötig, Metodi METODIEV
Source :
Hum. Mutat.2019 oct 7Pmid / DOI:
30252186 -
Rima NABBOUT
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Brain2019 sep 27Pmid / DOI:
31532509 -
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
Jacinta Bustamante
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J. Clin. Invest.2019 sep 24Pmid / DOI:
29969437 -
Marina Cavazzana
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Haematologica2019 sep 20Pmid / DOI:
31537695 -
Somatic genetic rescue in Mendelian haematopoietic diseases.
Patrick Revy, Alain Fischer
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Nat. Rev. Genet.2019 sep 18Pmid / DOI:
31186537 -
The Benefits of Tubular Proteinuria: An Evolutionary Perspective.
Matias Simons
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J. Am. Soc. Nephrol.2019 sep 17Pmid / DOI:
29371418 -
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Jean-Laurent CASANOVA
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J. Clin. Invest.2019 sep 16Pmid / DOI:
30395541 -
Alain Hovnanian
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J. Invest. Dermatol.2019 sep 13Pmid / DOI:
29758284 -
Source :
J. Invest. Dermatol.2019 sep 13Pmid / DOI:
29758284 -
Agnès Rötig, Arnold Munnich, Jean Paul BONNEFONT, Julie STEFFANN
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J. Med. Genet.2019 sep 10Pmid / DOI:
28754700 -
Prenatal factors associated with neonatal survival of infants with congenital chylothorax.
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J Perinatol2019 sep 9Pmid / DOI:
29048403 -
Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat
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Sci Immunol2019 sep 9Pmid / DOI:
30578352 -
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
Jean-Laurent CASANOVA
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Sci Immunol2019 sep 9Pmid / DOI:
30578351 -
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Olivier Gribouval, Olivia Boyer
Source :
Nat Commun2019 sep 6Pmid / DOI:
31481669 -
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.
Jean-Laurent CASANOVA
Source :
J. Exp. Med.2019 sep 4Pmid / DOI:
30143481