共 4 条
[1]
ClinVar: improving access to variant interpretations and supporting evidence
[J].
Landrum, Melissa J.
;
Lee, Jennifer M.
;
Benson, Mark
;
Brown, Garth R.
;
Chao, Chen
;
Chitipiralla, Shanmuga
;
Gu, Baoshan
;
Hart, Jennifer
;
Hoffman, Douglas
;
Jang, Wonhee
;
Karapetyan, Karen
;
Katz, Kenneth
;
Liu, Chunlei
;
Maddipatla, Zenith
;
Malheiro, Adriana
;
McDaniel, Kurt
;
Ovetsky, Michael
;
Riley, George
;
Zhou, George
;
Holmes, J. Bradley
;
Kattman, Brandi L.
;
Maglott, Donna R.
.
NUCLEIC ACIDS RESEARCH,
2018, 46 (D1)
:D1062-D1067

Landrum, Melissa J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Lee, Jennifer M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Benson, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Brown, Garth R.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Chao, Chen
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Chitipiralla, Shanmuga
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Gu, Baoshan
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Hart, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Hoffman, Douglas
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Jang, Wonhee
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Karapetyan, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Katz, Kenneth
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Liu, Chunlei
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Maddipatla, Zenith
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Malheiro, Adriana
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

McDaniel, Kurt
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Ovetsky, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Riley, George
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Zhou, George
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Holmes, J. Bradley
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Kattman, Brandi L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Maglott, Donna R.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
[2]
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
[J].
Liu, Luyan
;
Okada, Satoshi
;
Kong, Xiao-Fei
;
Kreins, Alexandra Y.
;
Cypowyj, Sophie
;
Abhyankar, Avinash
;
Toubiana, Julie
;
Itan, Yuval
;
Audry, Magali
;
Nitschke, Patrick
;
Masson, Cecile
;
Toth, Beata
;
Flatot, Jerome
;
Migaud, Melanie
;
Chrabieh, Maya
;
Kochetkov, Tatiana
;
Bolze, Alexandre
;
Borghesi, Alessandro
;
Toulon, Antoine
;
Hiller, Julia
;
Eyerich, Stefanie
;
Eyerich, Kilian
;
Gulacsy, Vera
;
Chernyshova, Ludmyla
;
Chernyshov, Viktor
;
Bondarenko, Anastasia
;
Cortes Grimaldo, Rosa Maria
;
Blancas-Galicia, Lizbeth
;
Madrigal Beas, Ileana Maria
;
Roesler, Joachim
;
Magdorf, Klaus
;
Engelhard, Dan
;
Thumerelle, Caroline
;
Burgel, Pierre-Regis
;
Hoernes, Miriam
;
Drexel, Barbara
;
Seger, Reinhard
;
Kusuma, Theresia
;
Jansson, Annette F.
;
Sawalle-Belohradsky, Julie
;
Belohradsky, Bernd
;
Jouanguy, Emmanuelle
;
Bustamante, Jacinta
;
Bue, Melanie
;
Karin, Nathan
;
Wildbaum, Gizi
;
Bodemer, Christine
;
Lortholary, Olivier
;
Fischer, Alain
;
Blanche, Stephane
.
JOURNAL OF EXPERIMENTAL MEDICINE,
2011, 208 (08)
:1635-1648

Liu, Luyan
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
Univ Paris 05, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Okada, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Kong, Xiao-Fei
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Kreins, Alexandra Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Cypowyj, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

论文数: 引用数:
h-index:
机构:

Toubiana, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Pediat, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Itan, Yuval
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Audry, Magali
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Nitschke, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Bioinformat Unit, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Masson, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Bioinformat Unit, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Toth, Beata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Debrecen, Med & Hlth Sci Ctr, Dept Infect & Pediat Immunol, H-4032 Debrecen, Hungary Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Flatot, Jerome
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
Univ Paris 05, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Migaud, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
Univ Paris 05, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

论文数: 引用数:
h-index:
机构:

Kochetkov, Tatiana
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Bolze, Alexandre
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
Univ Paris 05, F-75015 Paris, France
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

论文数: 引用数:
h-index:
机构:

Toulon, Antoine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Dermatol, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Hiller, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Ctr TUM, Ctr Allergy & Environm, D-80802 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Eyerich, Stefanie
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Ctr TUM, Ctr Allergy & Environm, D-80802 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Eyerich, Kilian
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Ctr TUM, Ctr Allergy & Environm, D-80802 Munich, Germany
Tech Univ Munich, Dept Dermatol, D-80802 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Gulacsy, Vera
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Debrecen, Med & Hlth Sci Ctr, Dept Infect & Pediat Immunol, H-4032 Debrecen, Hungary Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Chernyshova, Ludmyla
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Med Acad Postgrad Educ, Dept Pediat Infect Dis & Clin Immunol, UA-01024 Kiev, Ukraine Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Chernyshov, Viktor
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Acad Med Sci, Inst Pediat Obstet & Gynecol, Immunol Lab, UA-01024 Kiev, Ukraine Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Bondarenko, Anastasia
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Med Acad Postgrad Educ, Dept Pediat Infect Dis & Clin Immunol, UA-01024 Kiev, Ukraine Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Cortes Grimaldo, Rosa Maria
论文数: 0 引用数: 0
h-index: 0
机构:
UMAE HE CMNO IMMS, Allergy & Immunol Dept, Guadalajara 44500, Jalisco, Mexico Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Blancas-Galicia, Lizbeth
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Pediat, Mexico City 04530, DF, Mexico Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Madrigal Beas, Ileana Maria
论文数: 0 引用数: 0
h-index: 0
机构:
UMAE HE CMNO IMMS, Allergy & Immunol Dept, Guadalajara 44500, Jalisco, Mexico Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Roesler, Joachim
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Carl Gustav Carus, Dept Pediat, D-01307 Dresden, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Magdorf, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Charite Med Sch Berlin, Dept Pediat Pneumol & Immunol, D-11117 Berlin, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Engelhard, Dan
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Univ Hosp, Dept Pediat, IL-91120 Jerusalem, Israel Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Thumerelle, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Jeanne de Flandres, Pneumol & Allergol Unit, F-59037 Lille, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Burgel, Pierre-Regis
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, AP HP, Pneumol & UPRES EA 2511, F-75014 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Hoernes, Miriam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Childrens Hosp, Div Immunol Hematol & BMT, Childrens Res Ctr, CH-8032 Zurich, Switzerland Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Drexel, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Childrens Hosp, Div Immunol Hematol & BMT, Childrens Res Ctr, CH-8032 Zurich, Switzerland Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Seger, Reinhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Childrens Hosp, Div Immunol Hematol & BMT, Childrens Res Ctr, CH-8032 Zurich, Switzerland Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Kusuma, Theresia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Univ Childrens Hosp, Dr von Haunersches Kinderspital, D-80337 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Jansson, Annette F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Univ Childrens Hosp, Dr von Haunersches Kinderspital, D-80337 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Sawalle-Belohradsky, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Univ Childrens Hosp, Dr von Haunersches Kinderspital, D-80337 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Belohradsky, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Univ Childrens Hosp, Dr von Haunersches Kinderspital, D-80337 Munich, Germany Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Bue, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Ctr Brest, F-29609 Brest, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Karin, Nathan
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Fac Med, IL-31096 Haifa, Israel Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Wildbaum, Gizi
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rappaport Fac Med, IL-31096 Haifa, Israel Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Bodemer, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Dermatol, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Lortholary, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Dept Infect Dis, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France

Blanche, Stephane
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, F-75015 Paris, France Necker Med Sch, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
[3]
HumanSTAT1Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
[J].
Okada, Satoshi
;
Asano, Takaki
;
Moriya, Kunihiko
;
Boisson-Dupuis, Stephanie
;
Kobayashi, Masao
;
Casanova, Jean-Laurent
;
Puel, Anne
.
JOURNAL OF CLINICAL IMMUNOLOGY,
2020, 40 (08)
:1065-1081

Okada, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

Asano, Takaki
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

Moriya, Kunihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,UMR1163, Paris, France
Univ Paris, Imagine Inst, Paris, France Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

Boisson-Dupuis, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,UMR1163, Paris, France
Univ Paris, Imagine Inst, Paris, France Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

Kobayashi, Masao
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM,UMR1163, Paris, France
Univ Paris, Imagine Inst, Paris, France
Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France
Howard Hughes Med Inst, New York, NY USA Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

论文数: 引用数:
h-index:
机构:
[4]
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
[J].
Toubiana, Julie
;
Okada, Satoshi
;
Hiller, Julia
;
Oleastro, Matias
;
Lagos Gomez, Macarena
;
Aldave Becerra, Juan Carlos
;
Ouachee-Chardin, Marie
;
Fouyssac, Fanny
;
Girisha, Katta Mohan
;
Etzioni, Amos
;
Van Montfrans, Joris
;
Camcioglu, Yildiz
;
Kerns, Leigh Ann
;
Belohradsky, Bernd
;
Blanche, Stephane
;
Bousfiha, Aziz
;
Rodriguez-Gallego, Carlos
;
Meyts, Isabelle
;
Kisand, Kai
;
Reichenbach, Janine
;
Renner, Ellen D.
;
Rosenzweig, Sergio
;
Grimbacher, Bodo
;
van de Veerdonk, Frank L.
;
Traidl-Hoffmann, Claudia
;
Picard, Capucine
;
Marodi, Laszlo
;
Morio, Tomohiro
;
Kobayashi, Masao
;
Lilic, Desa
;
Milner, Joshua D.
;
Holland, Steven
;
Casanova, Jean-Laurent
;
Puel, Anne
;
Cypowyj, Sophie
;
Thumerelle, Caroline
;
Toulon, Antoine
;
Bustamante, Jacinta
;
Tahuil, Natalia
;
Salhi, Aicha
;
Boiu, Sorina
;
Chopra, Charu
;
Di Giovanni, Daniela
;
Bezrodnik, Liliana
;
Boutros, Jeannette
;
Thomas, Caroline
;
Lacuesta, Gina
;
Jannier, Sarah
;
Korganow, Anne-Sophie
;
Paillard, Catherine
.
BLOOD,
2016, 127 (25)
:3154-3164

Toubiana, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France
Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France
Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France
Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Okada, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Hiller, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ, UNIKA T, Inst Environm Med, Augsburg, Germany
Helmholtz Ctr Munich, Augsburg, Germany
CK CARE, Davos, Switzerland Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Oleastro, Matias
论文数: 0 引用数: 0
h-index: 0
机构:
Juan Pedro Garrahan Natl Hosp Pediat, Immunol & Reumatholoy Dept, Buenos Aires, DF, Argentina Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Lagos Gomez, Macarena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Valparaiso, Sch Med, Dept Preclin, Valparaiso, Chile
Padre Hurtado Clin Alemana Santiago Hosp, Valparaiso, Chile Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Aldave Becerra, Juan Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
Edgardo Rebagliati Martins Natl Hosp, Allergy & Immunol Div, Lima, Peru Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Ouachee-Chardin, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Hosp, AP HP, Pediat Hematol Oncol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Fouyssac, Fanny
论文数: 0 引用数: 0
h-index: 0
机构:
Children Hosp, Pediat Oncol & Hematol Unit, Vandoeuvre Les Nancy, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Girisha, Katta Mohan
论文数: 0 引用数: 0
h-index: 0
机构:
Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, India Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Etzioni, Amos
论文数: 0 引用数: 0
h-index: 0
机构:
Meyer Childrens Hosp, Haifa, Israel Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Van Montfrans, Joris
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Med Ctr, Dept Pediat Immunol Hematol & Infect Dis, Utrecht, Netherlands Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Camcioglu, Yildiz
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Cerrahpasa Med Sch, Infect Dis Clin Immunol & Allergy Div, Dept Pediat, Istanbul, Turkey Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Kerns, Leigh Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Rainbow Babies & Childrens Hosp, Case Med Ctr, Div Pediat Pulmonol Allergy Immunol & Sleep Med, 2101 Adelbert Rd, Cleveland, OH 44106 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Belohradsky, Bernd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Blanche, Stephane
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France
Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Bousfiha, Aziz
论文数: 0 引用数: 0
h-index: 0
机构:
King Hassan II Univ, Ibn Rochd Hosp, Dept Pediat Infect Dis, Clin Immunol Unit, Casablanca, Morocco Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Rodriguez-Gallego, Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
Son Espases Univ Hosp, Dept Immunol, Palma de Mallorca, Spain Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Meyts, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Leuven Univ Hosp, Dept Pediat, Leuven, Belgium Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Kisand, Kai
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tartu, Inst Biomed & Translat Med, Ulikooli 18, EE-50090 Tartu, Estonia Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

论文数: 引用数:
h-index:
机构:

Renner, Ellen D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Rosenzweig, Sergio
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Grimbacher, Bodo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Med Ctr, Ctr Chron Immunodeficiency, Hugstetter Str 55, D-79106 Freiburg, Germany
Univ Freiburg, Hugstetter Str 55, D-79106 Freiburg, Germany Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

van de Veerdonk, Frank L.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis, Dept Internal Med, NL-6525 ED Nijmegen, Netherlands Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Traidl-Hoffmann, Claudia
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ, UNIKA T, Inst Environm Med, Augsburg, Germany
Helmholtz Ctr Munich, Augsburg, Germany
CK CARE, Davos, Switzerland Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France
Necker Enfants Malades Hosp, AP HP, Pediat Hematol Immunol Rheumatol Unit, Paris, France
Necker Enfants Malades Hosp, AP HP, Study Ctr Immunodeficiencies, Paris, France Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Marodi, Laszlo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Debrecen, Fac Med, Dept Infect Dis & Pediat Immunol, Debrecen, Hungary Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Morio, Tomohiro
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Med & Dent Univ, Dept Pediat & Dev Biol, Tokyo, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Kobayashi, Masao
论文数: 0 引用数: 0
h-index: 0
机构:
Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Lilic, Desa
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Milner, Joshua D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Holland, Steven
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, Sorbonne Paris Cite, Inst Imagine, Paris, France
Necker Med Sch, Lab Human Genet Infect Dis, Necker Branch, INSERM,UMR1163, Paris, France
Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
Howard Hughes Med Inst, New York, NY USA Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

论文数: 引用数:
h-index:
机构:

Cypowyj, Sophie
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Thumerelle, Caroline
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Toulon, Antoine
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Bustamante, Jacinta
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Tahuil, Natalia
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Salhi, Aicha
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Boiu, Sorina
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Chopra, Charu
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Di Giovanni, Daniela
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Bezrodnik, Liliana
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Boutros, Jeannette
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Thomas, Caroline
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Lacuesta, Gina
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Jannier, Sarah
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Korganow, Anne-Sophie
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France

Paillard, Catherine
论文数: 0 引用数: 0
h-index: 0
机构: Necker Enfants Malades Hosp, AP HP, Dept Gen Pediat & Pediat Infect Dis, Paris, France