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1 . Academic Journal
European standard clinical practice – Key issues for the medical care of individuals with familial leukemia
저자
by
Förster, Alisa
;
Davenport, Claudia
;
Duployez, Nicolas
;
Erlacher, Miriam
;
Ferster, Alina
, et al.
소스
In
European Journal of Medical Genetics
April 2023 66(4)
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7 . Academic Journal
A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia
저자
by
Siva, Kavitha
;
Ek, Fredrik
;
Chen, Jun
;
Ghani Alattar, Abdul
;
Sigmundsson, Kristmundur
, et al.
소스
In
SLAS Discovery
March 2019 24(3):304-313
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7 . Academic Journal
P6 - NPM1 MUTATIONS IN CHILDREN WITH MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS
저자
by
Yoshimi, Ayami
;
Erlacher, Miriam
;
Noellke, Peter
;
Ramamoorthy, Senthilkumar
;
Göhring, Gudrun
, et al.
소스
In
EJC Paediatric Oncology
December 2023 2 Supplement 1
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7 . Academic Journal
OC 32 - DEVELOPMENT OF NEW GENE EDITING APPROACHES FOR BONE MARROW FAILURE AND MDS PREDISPOSITION SYNDROMES
저자
by
Krzyzanowski, Damian
;
Khiami, Mjad
;
Han, Lei
;
Sahoo, Sushree
;
Miller, Shondra
, et al.
소스
In
EJC Paediatric Oncology
December 2023 2 Supplement 1
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7 . Academic Journal
OC 23 - GENOME SEQUENCING APPROACHES FOR DIAGNOSIS AND DISCOVERY OF BMF/MDS SPECIFIC GENETIC ALTERATIONS
저자
by
Wlodarski, Marcin
.
소스
In
EJC Paediatric Oncology
December 2023 2 Supplement 1
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3 . Academic Journal
OC 22 - GERMLINE LOSS-OF-FUNCTION MUTATIONS IN MDM4 CAUSE A NEW BONE MARROW FAILURE SYNDROME WITH TP53- DEPENDENT HEMATOPOIETIC CELL DEATH
저자
by
Sharma, Richa
;
Bhoopalan, Senthil Velan
;
Meyer, Robert
;
Han, Lei
;
Pruett-Miller, Shondra M.
, et al.
소스
In
EJC Paediatric Oncology
December 2023 2 Supplement 1
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7 . Academic Journal
OC 20 - GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS
저자
by
Kotmayer, Lili
;
Kozyra, Emilia
;
Kaiser, Maximilian
;
Dworzak, Michael
;
Moerloose, Barbara De
, et al.
소스
In
EJC Paediatric Oncology
December 2023 2 Supplement 1
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7 . Academic Journal
103. Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP GATA2 variant curation rules
저자
by
Walker, Taylor
;
Mohan, Shruthi
;
Tallis, Eran
;
Keel, Sioban
;
Wlodarski, Marcin
, et al.
소스
In
Cancer Genetics
November 2023 278-279 Supplement 1
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7 . Academic Journal
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience
저자
by
Da Costa, Lydie
;
O'Donohue, Marie-Françoise
;
van Dooijeweert, Birgit
;
Albrecht, Katarzyna
;
Unal, Sule
, et al.
소스
In
European Journal of Medical Genetics
November 2018 61(11):664-673
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7 . Academic Journal
SNP array–based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes
저자
by
Afable, Manuel G., II
;
Wlodarski, Marcin
;
Makishima, Hideki
;
Shaik, Mohammed
;
Sekeres, Mikkael A.
, et al.
소스
In
Blood
23 June 2011 117(25):6876-6884
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