Results
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A nonsense mutation in IKBKB causes combined immunodeficiency. [electronic resource] by
- Mousallem, Talal
- Yang, Jialong
- Urban, Thomas J
- Wang, Hongxia
- Adeli, Mehdi
- Parrott, Roberta E
- Roberts, Joseph L
- Goldstein, David B
- Buckley, Rebecca H
- Zhong, Xiao-Ping
Producer: 20141126
In:
Blood vol. 124
Availability: No items available.
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Clinical application of whole-genome sequencing in patients with primary immunodeficiency. [electronic resource] by
- Mousallem, Talal
- Urban, Thomas J
- McSweeney, K Melodi
- Kleinstein, Sarah E
- Zhu, Mingfu
- Adeli, Mehdi
- Parrott, Roberta E
- Roberts, Joseph L
- Krueger, Brian
- Buckley, Rebecca H
- Goldstein, David B
Producer: 20151022
In:
The Journal of allergy and clinical immunology vol. 136
Availability: No items available.
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6.
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CD45-deficient severe combined immunodeficiency caused by uniparental disomy. [electronic resource] by
- Roberts, Joseph L
- Buckley, Rebecca H
- Luo, Biao
- Pei, Jianming
- Lapidus, Alla
- Peri, Suraj
- Wei, Qiong
- Shin, Jinwook
- Parrott, Roberta E
- Dunbrack, Roland L
- Testa, Joseph R
- Zhong, Xiao-Ping
- Wiest, David L
Producer: 20120918
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 109
Availability: No items available.
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7.
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. [electronic resource] by
- Petrovski, Slavé
- Parrott, Roberta E
- Roberts, Joseph L
- Huang, Hongxiang
- Yang, Jialong
- Gorentla, Balachandra
- Mousallem, Talal
- Wang, Endi
- Armstrong, Martin
- McHale, Duncan
- MacIver, Nancie J
- Goldstein, David B
- Zhong, Xiao-Ping
- Buckley, Rebecca H
Producer: 20171101
In:
Journal of clinical immunology vol. 36
Availability: No items available.
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8.
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T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. [electronic resource] by
- Roberts, Joseph L
- Lauritsen, Jens Peter H
- Cooney, Myriah
- Parrott, Roberta E
- Sajaroff, Elisa O
- Win, Chan M
- Keller, Michael D
- Carpenter, Jeffery H
- Carabana, Juan
- Krangel, Michael S
- Sarzotti, Marcella
- Zhong, Xiao-Ping
- Wiest, David L
- Buckley, Rebecca H
Producer: 20070523
In:
Blood vol. 109
Availability: No items available.
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B-cell differentiation and IL-21 response in [electronic resource] by
- Miggelbrink, Alexandra M
- Logan, Brent R
- Buckley, Rebecca H
- Parrott, Roberta E
- Dvorak, Christopher C
- Kapoor, Neena
- Abdel-Azim, Hisham
- Prockop, Susan E
- Shyr, David
- Decaluwe, Hélène
- Hanson, Imelda C
- Gillio, Alfred
- Dávila Saldaña, Blachy J
- Eibel, Hermann
- Hopkins, Gregory
- Walter, Jolan E
- Whangbo, Jennifer S
- Kohn, Donald B
- Puck, Jennifer M
- Cowan, Morton J
- Griffith, Linda M
- Haddad, Elie
- O'Reilly, Richard J
- Notarangelo, Luigi D
- Pai, Sung-Yun
Producer: 20190715
In:
Blood vol. 131
Availability: No items available.
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Transplantation outcomes for severe combined immunodeficiency, 2000-2009. [electronic resource] by
- Pai, Sung-Yun
- Logan, Brent R
- Griffith, Linda M
- Buckley, Rebecca H
- Parrott, Roberta E
- Dvorak, Christopher C
- Kapoor, Neena
- Hanson, Imelda C
- Filipovich, Alexandra H
- Jyonouchi, Soma
- Sullivan, Kathleen E
- Small, Trudy N
- Burroughs, Lauri
- Skoda-Smith, Suzanne
- Haight, Ann E
- Grizzle, Audrey
- Pulsipher, Michael A
- Chan, Ka Wah
- Fuleihan, Ramsay L
- Haddad, Elie
- Loechelt, Brett
- Aquino, Victor M
- Gillio, Alfred
- Davis, Jeffrey
- Knutsen, Alan
- Smith, Angela R
- Moore, Theodore B
- Schroeder, Marlis L
- Goldman, Frederick D
- Connelly, James A
- Porteus, Matthew H
- Xiang, Qun
- Shearer, William T
- Fleisher, Thomas A
- Kohn, Donald B
- Puck, Jennifer M
- Notarangelo, Luigi D
- Cowan, Morton J
- O'Reilly, Richard J
Producer: 20140812
In:
The New England journal of medicine vol. 371
Availability: No items available.
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11.
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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. [electronic resource] by
- Dobbs, Kerry
- Domínguez Conde, Cecilia
- Zhang, Shen-Ying
- Parolini, Silvia
- Audry, Magali
- Chou, Janet
- Haapaniemi, Emma
- Keles, Sevgi
- Bilic, Ivan
- Okada, Satoshi
- Massaad, Michel J
- Rounioja, Samuli
- Alwahadneh, Adel M
- Serwas, Nina K
- Capuder, Kelly
- Çiftçi, Ergin
- Felgentreff, Kerstin
- Ohsumi, Toshiro K
- Pedergnana, Vincent
- Boisson, Bertrand
- Haskoloğlu, Şule
- Ensari, Arzu
- Schuster, Michael
- Moretta, Alessandro
- Itan, Yuval
- Patrizi, Ornella
- Rozenberg, Flore
- Lebon, Pierre
- Saarela, Janna
- Knip, Mikael
- Petrovski, Slavé
- Goldstein, David B
- Parrott, Roberta E
- Savas, Berna
- Schambach, Axel
- Tabellini, Giovanna
- Bock, Christoph
- Chatila, Talal A
- Comeau, Anne Marie
- Geha, Raif S
- Abel, Laurent
- Buckley, Rebecca H
- İkincioğulları, Aydan
- Al-Herz, Waleed
- Helminen, Merja
- Doğu, Figen
- Casanova, Jean-Laurent
- Boztuğ, Kaan
- Notarangelo, Luigi D
Producer: 20150624
In:
The New England journal of medicine vol. 372
Availability: No items available.
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12.
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SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. [electronic resource] by
- Haddad, Elie
- Logan, Brent R
- Griffith, Linda M
- Buckley, Rebecca H
- Parrott, Roberta E
- Prockop, Susan E
- Small, Trudy N
- Chaisson, Jessica
- Dvorak, Christopher C
- Murnane, Megan
- Kapoor, Neena
- Abdel-Azim, Hisham
- Hanson, Imelda C
- Martinez, Caridad
- Bleesing, Jack J H
- Chandra, Sharat
- Smith, Angela R
- Cavanaugh, Matthew E
- Jyonouchi, Soma
- Sullivan, Kathleen E
- Burroughs, Lauri
- Skoda-Smith, Suzanne
- Haight, Ann E
- Tumlin, Audrey G
- Quigg, Troy C
- Taylor, Candace
- Dávila Saldaña, Blachy J
- Keller, Michael D
- Seroogy, Christine M
- Desantes, Kenneth B
- Petrovic, Aleksandra
- Leiding, Jennifer W
- Shyr, David C
- Decaluwe, Hélène
- Teira, Pierre
- Gillio, Alfred P
- Knutsen, Alan P
- Moore, Theodore B
- Kletzel, Morris
- Craddock, John A
- Aquino, Victor
- Davis, Jeffrey H
- Yu, Lolie C
- Cuvelier, Geoffrey D E
- Bednarski, Jeffrey J
- Goldman, Frederick D
- Kang, Elizabeth M
- Shereck, Evan
- Porteus, Matthew H
- Connelly, James A
- Fleisher, Thomas A
- Malech, Harry L
- Shearer, William T
- Szabolcs, Paul
- Thakar, Monica S
- Vander Lugt, Mark T
- Heimall, Jennifer
- Yin, Ziyan
- Pulsipher, Michael A
- Pai, Sung-Yun
- Kohn, Donald B
- Puck, Jennifer M
- Cowan, Morton J
- O'Reilly, Richard J
- Notarangelo, Luigi D
Producer: 20190716
In:
Blood vol. 132
Availability: No items available.
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