Results
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A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency. [electronic resource] by
- Lagresle-Peyrou, Chantal
- Olichon, Aurélien
- Sadek, Hanem
- Roche, Philippe
- Tardy, Claudine
- Da Silva, Cindy
- Garrigue, Alexandrine
- Fischer, Alain
- Moshous, Despina
- Collette, Yves
- Picard, Capucine
- Casanova, Jean Laurent
- André, Isabelle
- Cavazzana, Marina
Producer: 20210527
In:
Haematologica vol. 106
Availability: No items available.
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Heterozygous [electronic resource] by
- Marsh, Judith C W
- Gutierrez-Rodrigues, Fernanda
- Cooper, James
- Jiang, Jie
- Gandhi, Shreyans
- Kajigaya, Sachiko
- Feng, Xingmin
- Ibanez, Maria Del Pilar F
- Donaires, Flávia S
- Lopes da Silva, João P
- Li, Zejuan
- Das, Soma
- Ibanez, Maria
- Smith, Alexander E
- Lea, Nicholas
- Best, Steven
- Ireland, Robin
- Kulasekararaj, Austin G
- McLornan, Donal P
- Pagliuca, Anthony
- Callebaut, Isabelle
- Young, Neal S
- Calado, Rodrigo T
- Townsley, Danielle M
- Mufti, Ghulam J
Producer: 20190102
In:
Blood advances vol. 2
Availability: No items available.
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Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. [electronic resource] by
- Perez Botero, Juliana
- Ho, Thanh P
- Hogan, William J
- Kenderian, Saad
- Gangat, Naseema
- Tefferi, Ayalew
- Abraham, Roshini S
- Nguyen, Phuong
- Oliveira, Jennifer L
- He, Rong
- Chen, Dong
- Viswanatha, David
- Rodriguez, Vilmarie
- Khan, Shakila P
- Patnaik, Mrinal M
Producer: 20190610
In:
British journal of haematology vol. 182
Availability: No items available.
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SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. [electronic resource] by
- Visconte, Valeria
- Tabarroki, Ali
- Rogers, Heesun J
- Hasrouni, Edy
- Traina, Fabiola
- Makishima, Hideki
- Hamilton, Betty K
- Liu, Yang
- O'Keefe, Christine
- Lichtin, Alan
- Horwitz, Leonard
- Sekeres, Mikkael A
- Hsieh, Fred H
- Tiu, Ramon V
Producer: 20140714
In:
Haematologica vol. 98
Availability: No items available.
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