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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

Journal of clinical immunology, 2021, Vol.41 (1), p.59-65

2021

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A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations

Allergologia et immunopathologia, 2021-01, Vol.49 (4), p.91-97

2021

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Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

Endocrine, metabolic & immune disorders drug targets, 2022-09, Vol.22 (10), p.1040-1046

2022

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VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

Nucleic acids research, 2017-07, Vol.45 (W1), p.W567-W572

2017

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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

The New England journal of medicine, 2017-07, Vol.377 (1), p.52-61

2017

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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

The Journal of clinical investigation, 2019-10, Vol.129 (10), p.4194-4206

2019

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Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations

British journal of haematology, 2018-07, Vol.182 (2), p.251-258

2018

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature communications, 2024-02, Vol.15 (1), p.1640-1640, Article 1640

2024

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Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells

Biochimica et biophysica acta, 2012-08, Vol.1822 (8), p.1270-1283

2012

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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

Journal of clinical immunology, 2015-08, Vol.35 (6), p.523-526

2015

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Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway

Journal of proteome research, 2016-09, Vol.15 (9), p.2900-2909

2016

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Polymerase [delta] deficiency causes syndromic immunodeficiency with replicative stress

The Journal of clinical investigation, 2019-10, Vol.129 (10), p.4194

2019

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Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma

Klinische Padiatrie, 2017-05, Vol.229 (3), p.113-117

2017

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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C[delta] Deficiency

Journal of clinical immunology, 2015-08, Vol.35 (6), p.523

2015

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Loss of NPC1 leads to decreased expression of APP at the cell surface and alters APP distribution within endosome compartments

Alzheimer's & dementia, 2009-07, Vol.5 (4), p.P301-P301

2009

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P2‐135: Loss of NPC1 leads to decreased expression of APP at the cell surface and alters APP distribution within endosome compartments

Alzheimer's & dementia, 2009-07, Vol.5 (4S_Part_10), p.P301-P301

2009

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EIGHTY YEARS OF ELECTROCONVULSIVE THERAPY IN CROATIA AND IN SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE

Acta clinica Croatica (Tisak), 2020-09, Vol.59 (3), p.489-495

2020

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EIGHTY YEARS OF ELECTROCONVULSIVE THERAPY IN CROATIA AND IN SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE/OSAMDESET GODINA ELEKTROKONVULZIVNE TERAPIJE U HRVATSKOJ I U KLINICKOM BOLNICKOM CENTRU SESTRE MILOSRDNICE

Acta clinica Croatica (Tisak), 2020-09, Vol.59 (3), p.489

2020

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Prikazi

Revija za sociologiju, 2012, Vol.42 (3), p.337-345

2012

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The Resident Surgeon Phacoemulsification Learning Curve at Clinical Department of Ophthalmology, Sestre Milosrdnice University Hospital Center

Acta clinica Croatica (Tisak), 2016-12, Vol.55 (4), p.549-554

2016

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Positive end-expiratory pressure lung recruitment: comparison between lower inflection point and ultrasound assessment

Wiener Klinische Wochenschrift, 2012-12, Vol.124 (23-24), p.842-847

2012

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The role of apoptosis in the pathogenesis of malignant melanoma

Collegium antropologicum, 2010-04, Vol.34 Suppl 2 (2), p.303-306

2010

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HYDRATION AND LEACHING OF THE CEMENT-ZEOLITE COMPOSITE

Ceramics (Praha), 2005-01, Vol.49 (3), p.213-219

2005

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Clinical guidelines for diagnosing, treatment and monitoring patients with prostate cancer--Croatian Oncology Society and Croatian Urology Society, Croatian Medical Association

Liječnički vjesnik, 2013-11, Vol.135 (11-12), p.298-305

2013

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Eksperimentalna istraživanja prototipova građevnih proizvoda

Građevinar, 2010, Vol.62 (10.), p.921

2010

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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations

Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway

Polymerase [delta] deficiency causes syndromic immunodeficiency with replicative stress

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase C[delta] Deficiency

Loss of NPC1 leads to decreased expression of APP at the cell surface and alters APP distribution within endosome compartments

P2‐135: Loss of NPC1 leads to decreased expression of APP at the cell surface and alters APP distribution within endosome compartments

EIGHTY YEARS OF ELECTROCONVULSIVE THERAPY IN CROATIA AND IN SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE

EIGHTY YEARS OF ELECTROCONVULSIVE THERAPY IN CROATIA AND IN SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE/OSAMDESET GODINA ELEKTROKONVULZIVNE TERAPIJE U HRVATSKOJ I U KLINICKOM BOLNICKOM CENTRU SESTRE MILOSRDNICE

Prikazi

The Resident Surgeon Phacoemulsification Learning Curve at Clinical Department of Ophthalmology, Sestre Milosrdnice University Hospital Center

Positive end-expiratory pressure lung recruitment: comparison between lower inflection point and ultrasound assessment

The role of apoptosis in the pathogenesis of malignant melanoma

HYDRATION AND LEACHING OF THE CEMENT-ZEOLITE COMPOSITE

Clinical guidelines for diagnosing, treatment and monitoring patients with prostate cancer--Croatian Oncology Society and Croatian Urology Society, Croatian Medical Association

Eksperimentalna istraživanja prototipova građevnih proizvoda

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