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1 . Academic Journal
XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors
저자
by
Bery, Amandine
;
Etienne, Olivier
;
Mouton, Laura
;
Mokrani, Sofiane
;
Granotier-Beckers, Christine
, et al.
소스
In
Cell Reports
25 April 2023 42(4)
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7 . Academic Journal
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency
저자
by
Farmer, Jocelyn R.
;
Foldvari, Zsofia
;
Ujhazi, Boglarka
;
De Ravin, Suk See
;
Chen, Karin
, et al.
소스
In
The Journal of Allergy and Clinical Immunology: In Practice
July-August 2019 7(6):1970-1985
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7 . Academic Journal
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
저자
by
Bertrand, Alexis
;
Ba, Ibrahima
;
Kermasson, Laëtitia
;
Pirabakaran, Vithura
;
Chable, Noémie
, et al.
소스
Human Molecular Genetics; Apr2024, Vol. 33 Issue 7, p612-623, 12p
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7 . Academic Journal
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome.
저자
by
Benyelles, Maname
;
O'Donohue, Marie-Françoise
;
Kermasson, Laëtitia
;
Lainey, Elodie
;
Borie, Raphael
, et al.
소스
Human Molecular Genetics; 3/15/2020, Vol. 29 Issue 6, p907-922, 16p
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7 . Academic Journal
IMMUNODEFICIENCIES: Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
저자
by
Okada, Satoshi
;
Markle, Janet G.
;
Deenick, Elissa K.
;
Mele, Federico
;
Averbuch, Dina
, et al.
소스
Science
. Aug 07, 2015 349(6248):606-613
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7 . Academic Journal
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
저자
by
Schuetz, Catharina
;
Neven, Benedicte
;
Dvorak, Christopher C.
;
Leroy, Sandrine
;
Ege, Markus J.
, et al.
소스
Blood
. 1/9/2014, Vol. 123 Issue 2, p281-289. 9p.
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7 . Academic Journal
DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.
저자
by
Rivera-Munoz, Paola
;
Malivert, Laurent
;
Derdouch, Sonia
;
Azerrad, Chantal
;
Abramowski, Vincent
, et al.
소스
European Journal of Immunology; Nov2007 Supplement, Vol. 37, pS71-S82, 12p
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7 . Academic Journal
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
저자
by
Moshous, Despina
;
Pennetier, Christophe
;
de Chasseval, Regina
;
le Deist, Francoise
;
Cavazzana-Calvo, Marina
, et al.
소스
Journal of Clinical Investigation
. 2/1/2003, Vol. 111 Issue 3, p381-387. 7p.
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7 . Academic Journal
A short peptide at the C terminus is responsible for the nuclear localization of RAG2.
저자
by
Corneo, Barbara
;
Benmerah, Alexandre
;
Villartay, Jean-Pierre de
.
소스
European Journal of Immunology; Jul2002, Vol. 32 Issue 7, p2068-2073, 6p
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5 . Academic Journal
Are we diagnosing too late? RAG deficiency in young adults with end organ damage.
저자
by
Saco, Tara
;
Geier, Christoph
;
Buchbinder, David
;
Hernandez, Joseph
;
Sharapova, Svetlana
, et al.
소스
Journal of Allergy & Clinical Immunology; 2021 Supplement, Vol. 147 Issue 2, pAB69-AB69, 1p
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