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1 . Academic Journal
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
저자
by
Dharmayat, Kanika Inamdar
;
Vallejo-Vaz, Antonio J.
;
Stevens, Christophe A.T.
;
Brandts, Julia M.
;
Lyons, Alexander R.M.
, et al.
소스
In
The Lancet
6-12 January 2024 403(10421):55-66
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7 . Academic Journal
High BMP4 expression in low/intermediate risk BCP-ALL identifies children with poor outcomes
저자
by
Fernández-Sevilla, Lidia M.
;
Valencia, Jaris
;
Ortiz-Sánchez, Paula
;
Fraile-Ramos, Alberto
;
Zuluaga, Pilar
, et al.
소스
In
Blood
2 June 2022 139(22):3303-3313
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7 . Academic Journal
SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant
저자
by
Meglic, Anamarija
;
Debeljak, Marusa
;
Kovac, Jernej
;
Trampus Bakija, Alenka
;
Rajic, Vladan
, et al.
소스
In
NEFROLOGIA (English Edition)
July-August 2020 40(4):420-427
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7 . Academic Journal
Challenges in identifying large germline structural variants for clinical use by long read sequencing
저자
by
Jenko Bizjan, Barbara
;
Katsila, Theodora
;
Tesovnik, Tine
;
Šket, Robert
;
Debeljak, Maruša
, et al.
소스
In
Computational and Structural Biotechnology Journal
2020 18:83-92
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7 . Academic Journal
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.
저자
by
Črepinšek, Klementina
;
Klobučar, Nika
;
Tesovnik, Tine
;
Šket, Robert
;
Jenko Bizjan, Barbara
, et al.
소스
Cancers
. Mar2024, Vol. 16 Issue 6, p1164. 14p.
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7 . Academic Journal
Disease evolution and outcomes in familial AML with germline CEBPA mutations
저자
by
Tawana, Kiran
;
Wang, Jun
;
Renneville, Aline
;
Bödör, Csaba
;
Hills, Robert
, et al.
소스
In
Blood
3 September 2015 126(10):1214-1223
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7 . Academic Journal
Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.
저자
by
Rojnik, Tamara
;
Sedlar, Nataša
;
Turk, Nana
;
Kastrin, Andrej
;
Debeljak, Maruša
, et al.
소스
Scientific Reports
. 10/4/2023, Vol. 13 Issue 1, p1-13. 13p.
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7 . Academic Journal
Acquired somatic variants confirm the independent development of AML in monozygotic twins with germline CEBPA variant
저자
by
Podgornik, Helena
;
Šućurović, Sandra
;
Škerget, Matevž
;
Debeljak, Maruša
;
Zver, Samo
.
소스
In
Leukemia Research
October 2022 121
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7 . Academic Journal
Integrative Transcriptomic Profiling of the Wilms Tumor.
저자
by
Avčin, Simona Lucija
;
Črepinšek, Klementina
;
Jenko Bizjan, Barbara
;
Šket, Robert
;
Kovač, Jernej
, et al.
소스
Cancers
. Aug2023, Vol. 15 Issue 15, p3846. 19p.
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7 .
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
저자
by
Štajer, Katarina
;
Kovač, Neja
;
Šikonja, Jaka
;
Mlinarič, Matej
;
Bertok, Sara
, et al.
소스
In
Molecular Genetics and Metabolism Reports
September 2023 36
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