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Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Annals of hepatology, 2021-11, Vol.25, p.100342-100342, Article 100342

2021

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Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

Frontiers in pediatrics, 2022-12, Vol.10, p.1061043

2022

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DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Diagnostics (Basel), 2023-05, Vol.13 (11), p.1917

2023

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Międzynarodowy wymiar Europejskiego Roku Dziedzictwa Kulturowego w świetle strategii Unii Europejskiej w obszarze międzynarodowych stosunków kulturalnych

Studia Europejskie (Warszawa), 2019-10, Vol.23 (3), p.153-179

Jurkiewicz-Eckert, Dorota

2019

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Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

Frontiers in pediatrics, 2021-01, Vol.8, p.616582

2021

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Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

Frontiers in pediatrics, 2020-07, Vol.8, p.414-414

2020

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The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1263-n/a

2020

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Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a

2023

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Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Frontiers in pediatrics, 2020-11, Vol.8, p.591379-591379

2020

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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2016-03, Vol.160 (1), p.161-167

2016

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Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.886-895

2010

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11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Pediatrics international, 2015-06, Vol.57 (3), p.486-491

2015

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IDCDC2/I-Related Ciliopathy: Report of Six Polish Patients, Novel IDCDC2/I Variant, and Literature Review of Reported Cases

Diagnostics (Basel), 2023-05, Vol.13 (11)

2023

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DNA methylation as an epigenetic biomarker in imprinting disorders

Postȩpy higieny i medycyny doświadczalnej, 2020-12, Vol.74, p.532-540

2020

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The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome

Endokrynologia polska, 2023-01, Vol.74 (3), p.285-293

2023

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X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Endokrynologia Polska, 2021-01, Vol.72 (2), p.108-119

2021

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Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Acta biochimica Polonica, 2020-05, Vol.67 (2), p.225

2020

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International Dimension of the European Year of Cultural Heritage in the Context of the European Union’s Strategy for International Cultural Relations

Studia Europejskie (Warszawa), 2019-10, Vol.23 (3), p.153-179

Jurkiewicz-Eckert, Dorota

2019

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Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1647-1650

2016

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Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Pediatria polska, 2014-11, Vol.89 (6), p.444-448

2014

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Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Pediatria polska, 2014-11, Vol.89 (6), p.444-448

2014

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Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Clinical dysmorphology, 2020-01, Vol.29 (1), p.28-34

2020

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A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.72-78

2017

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Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Journal of applied genetics, 2014-08, Vol.55 (3), p.329-336

2014

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Introduction

Synergies Roumanie, 2022-01 (17), p.7-8

2022

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Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Międzynarodowy wymiar Europejskiego Roku Dziedzictwa Kulturowego w świetle strategii Unii Europejskiej w obszarze międzynarodowych stosunków kulturalnych

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Clinical heterogeneity of polish patients with KAT6B–related disorder

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

IDCDC2/I-Related Ciliopathy: Report of Six Polish Patients, Novel IDCDC2/I Variant, and Literature Review of Reported Cases

DNA methylation as an epigenetic biomarker in imprinting disorders

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

International Dimension of the European Year of Cultural Heritage in the Context of the European Union’s Strategy for International Cultural Relations

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Introduction

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