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H-BRS Bibliography
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(4)
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Institut für funktionale Gen-Analytik (IFGA)
(4)
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Article
(4)
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2021
(1)
2020
(1)
2018
(1)
2012
(1)
Language
English
(4)
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(4)
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Exome sequencing
(1)
deficiency of adenosine deaminase 2
(1)
genome sequencing
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loss-of-function variants
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Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2
(2018)
Lee, Pui Y.
;
Huang, Yuelong
;
Zhou, Qing
;
Schnappauf, Oskar
;
Hershfield, Michael S.
;
Li, Ying
;
Ganson, Nancy J.
;
Sampaio Moura, Natalia
;
Delmonte, Ottavia M.
;
Stone, Scellig S.
;
Rivkin, Michael J.
;
Pai, Sung-Yun
;
Lyons, Todd
;
Sundel, Robert P.
;
Hsu, Victor W.
;
Notarangelo, Luigi D.
;
Aksentijevich, Ivona
;
Nigrovic, Peter A.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
(2020)
Schnappauf, Oskar
;
Zhou, Qing
;
Moura, Natalia Sampaio
;
Ombrello, Amanda K.
;
Michael, Drew G.
;
Deuitch, Natalie
;
Barron, Karyl
;
Stone, Deborah L.
;
Hoffmann, Patrycja
;
Hershfield, Michael
;
Applegate, Carolyn
;
Bjornsson, Hans T.
;
Beck, David B.
;
Witmer, P. Dane
;
Sobreira, Nara
;
Wohler, Elizabeth
;
Chiorini, John A.
;
Center, The American Genome
;
Dalgard, Clifton L.
;
Center, Nih Intramural Sequencing
;
Kastner, Daniel L.
;
Aksentijevich, Ivona
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis
(2012)
Speckmann, Carsten
;
Neumann, Carla
;
Borte, Stephan
;
La Marca, Giancarlo
;
Sass, Jörn Oliver
;
Wiech, Elisabeth
;
Fisch, Paul
;
Schwarz, Klaus
;
Buchholz, Bernd
;
Schlesier, Michael
;
Felgentreff, Kerstin
;
Grimbacher, Bodo
;
Santisteban, Ines
;
Bali, Pawan
;
Hershfield, Michael S.
;
Ehl, Stephan
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2
(2021)
Schnappauf, Oskar
;
Sampaio Moura, Natalia
;
Aksentijevich, Ivona
;
Stoffels, Monique
;
Ombrello, Amanda K.
;
Hoffmann, Patrycja
;
Barron, Karyl
;
Remmers, Elaine F.
;
Hershfield, Michael
;
Kelly, Susan J.
;
Cuthbertson, David
;
Carette, Simon
;
Chung, Sharon A.
;
Forbess, Lindsy
;
Khalidi, Nader A.
;
Koening, Curry L.
;
Langford, Carol A.
;
McAlear, Carol A.
;
Monach, Paul A.
;
Moreland, Larry
;
Pagnoux, Christian
;
Seo, Philip
;
Springer, Jason M.
;
Sreih, Antoine G.
;
Warrington, Kenneth J.
;
Ytterberg, Steven R.
;
Kastner, Daniel L.
;
Grayson, Peter C.
;
Merkel, Peter A.
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