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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
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
저자
by
Vallejo-Vaz, Antonio J.
;
Stevens, Christophe A.T.
;
Lyons, Alexander R.M.
;
Dharmayat, Kanika I.
;
Freiberger, Tomas
, et al.
소스
In
The Lancet
6-12 November 2021 398(10312):1713-1725
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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
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review
저자
by
Groselj, Urh
;
Kovac, Jernej
;
Sustar, Ursa
;
Mlinaric, Matej
;
Fras, Zlatko
, et al.
소스
In
Atherosclerosis
October 2018 277:383-391
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7 . Academic Journal
Next generation sequencing as a follow-up test in an expanded newborn screening programme
저자
by
Smon, Andraz
;
Repic Lampret, Barbka
;
Groselj, Urh
;
Zerjav Tansek, Mojca
;
Kovac, Jernej
, et al.
소스
In
Clinical Biochemistry
February 2018 52:48-55
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7 . Academic Journal
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia
저자
by
Groselj, Urh
;
Murko, Simona
;
Zerjav Tansek, Mojca
;
Kovac, Jernej
;
Trampus Bakija, Alenka
, et al.
소스
In
Clinical Biochemistry
January 2015 48(1-2):14-18
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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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