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Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. [electronic resource] by
- Lekbua, Asama
- Ouahed, Jodie
- O'Connell, Amy E
- Kahn, Stacy A
- Goldsmith, Jeffrey D
- Imamura, Toshihiko
- Duncan, Christine N
- Kelsen, Judith R
- Worthey, Elizabeth
- Snapper, Scott B
- Softic, Samir
Producer: 20200916
In:
Journal of pediatric gastroenterology and nutrition vol. 69
Availability: No items available.
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Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. [electronic resource] by
- O'Connell, Amy E
- Zhou, Fanny
- Shah, Manasvi S
- Murphy, Quinn
- Rickner, Hannah
- Kelsen, Judith
- Boyle, John
- Doyle, Jefferson J
- Gangwani, Bharti
- Thiagarajah, Jay R
- Kamin, Daniel S
- Goldsmith, Jeffrey D
- Richmond, Camilla
- Breault, David T
- Agrawal, Pankaj B
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. [electronic resource] by
- O'Connell, Amy E
- Gerashchenko, Maxim V
- O'Donohue, Marie-Francoise
- Rosen, Samantha M
- Huntzinger, Eric
- Gleeson, Diane
- Galli, Antonella
- Ryder, Edward
- Cao, Siqi
- Murphy, Quinn
- Kazerounian, Shideh
- Morton, Sarah U
- Schmitz-Abe, Klaus
- Gladyshev, Vadim N
- Gleizes, Pierre-Emmanuel
- Séraphin, Bertrand
- Agrawal, Pankaj B
Producer: 20190311
In:
PLoS genetics vol. 15
Availability: No items available.
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Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome. [electronic resource] by
- O'Connell, Amy E
- Volpi, Stefano
- Dobbs, Kerry
- Fiorini, Claudia
- Tsitsikov, Erdyni
- de Boer, Helen
- Barlan, Isil B
- Despotovic, Jenny M
- Espinosa-Rosales, Francisco J
- Hanson, I Celine
- Kanariou, Maria G
- Martínez-Beckerat, Roxana
- Mayorga-Sirera, Alvaro
- Mejia-Carvajal, Carmen
- Radwan, Nesrine
- Weiss, Aaron R
- Pai, Sung-Yun
- Lee, Yu Nee
- Notarangelo, Luigi D
Producer: 20140807
In:
Frontiers in immunology vol. 5
Availability: No items available.
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