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11 . Academic Journal
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi--Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
저자
by
Železnik, Mojca
;
Šalamon, Aneta Soltirovska
;
Debeljak, Maruša
;
Goropevšek, Aleš
;
Šuštar, Nataša
, et al.
소스
Frontiers in Immunology; 1/4/2023, Vol. 13, p01-07, 7p
Web of Science
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17 . Academic Journal
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
저자
by
Kavčič, Alja
;
Homan, Matjaž
;
Živanović, Milanka
;
Debeljak, Maruša
;
Butenko, Tita
, et al.
소스
American Journal of Case Reports
. 11/5/2022, Vol. 23, p1-4. 4p.
Web of Science
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17 . Academic Journal
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
저자
by
Machado, Rajiv D.
;
Welch, Carrie L.
;
Haimel, Matthias
;
Bleda, Marta
;
Colglazier, Elizabeth
, et al.
소스
Journal of Medical Genetics; Sep2022, Vol. 59 Issue 9, p906-911, 6p
Full Text (BMJ Journals)
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17 . Academic Journal
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
저자
by
Tusseau, Maud
;
Lovšin, Ema
;
Samaille, Charlotte
;
Pescarmona, Rémi
;
Mathieu, Anne-Laure
, et al.
소스
Journal of Clinical Immunology
. Aug2022, Vol. 42 Issue 6, p1310-1320. 11p.
Web of Science
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17 . Academic Journal
Heterozygous NPR2 Variants in Idiopathic Short Stature.
저자
by
Stavber, Lana
;
Gaia, Maria Joao
;
Hovnik, Tinka
;
Jenko Bizjan, Barbara
;
Debeljak, Maruša
, et al.
소스
Genes
. Jun2022, Vol. 13 Issue 6, p1065-1065. 9p.
Web of Science
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17 . Academic Journal
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
저자
by
Krasovec, Tjasa
;
Sikonja, Jaka
;
Zerjav Tansek, Mojca
;
Debeljak, Marusa
;
Ilovar, Sasa
, et al.
소스
Genes
. May2022, Vol. 13 Issue 5, p717-717. 12p.
Web of Science
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17 . Academic Journal
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
저자
by
Šket, Robert
;
Kotnik, Primož
;
Bizjan, Barbara Jenko
;
Kocen, Valentina
;
Mlinarič, Matej
, et al.
소스
Frontiers in Endocrinology; 4/29/2022, Vol. 13, p1-12, 12p
Web of Science
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17 . Academic Journal
The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes.
저자
by
Čugalj Kern, Barbara
;
Trebušak Podkrajšek, Katarina
;
Kovač, Jernej
;
Šket, Robert
;
Jenko Bizjan, Barbara
, et al.
소스
Genes
. Apr2022, Vol. 13 Issue 4, p705-705. 12p.
Web of Science
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17 . Academic Journal
Clinical impacts of copy number variations in B-cell differentiation and cell cycle control genes in pediatric B-cell acute lymphoblastic leukemia: a single centre experience.
저자
by
Crepinsek, Klementina
;
Marinsek, Gasper
;
Kavcic, Marko
;
Prelog, Tomaž
;
Kitanovski, Lidija
, et al.
소스
Radiology & Oncology; Mar2022, Vol. 56 Issue 1, p92-101, 10p
Web of Science
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17 . Academic Journal
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
저자
by
Hovnik, Tinka
;
Debeljak, Maruša
;
Pompe, Manca Tekavčič
;
Bertok, Sara
;
Battelino, Tadej
, et al.
소스
Acta Chimica Slovenica
. 2021, Vol. 68 Issue 3, p683-692. 10p.
Web of Science
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