Concepedia

Author

Dorota Jurkiewicz

Children's Memorial Health InstituteORCID

Also Known As

D Jurkiewicz, D. Jurkiewicz, Dorota Jurkiewicz, Jurkiewicz Dorota

48

Publications

554

Citations

15

H-Index

13

Concepts

All Affiliations

Children's Memorial Health InstituteMedical University of WarsawChildren's Hospital of PhiladelphiaUniversity of PennsylvaniaMossakowski Medical Research Institute, Polish Academy of Sciences
DJ

About

Dorota Jurkiewicz is an author at Children's Memorial Health Institute specializing in medicine, genetics, and molecular genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

4

4

74

2

Molecular Genetics

3

3

62

3

Pathology

3

3

45

4

Molecular Biology

1

1

29

5

Cardiovascular Genetics

1

1

12

Dorota Jurkiewicz

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18

Publications

432

Citations

14

H-Index

YearCitations

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

Melissa Leyva‐Vega, Jennifer Gerfen, Brian Thiel,

American Journal of Medical Genetics Part A

2010

76

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

Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka,

American Journal of Medical Genetics Part A

2016

47

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Dorota Jurkiewicz, Dorota Gliwicz, Elżbieta Ciara,

Journal of Applied Genetics

2014

33

A comprehensive <i>HADHA</i> c.1528G&gt;C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland

Dorota Piekutowska‐Abramczuk, Rikke Katrine Jentoft Olsen, Jolanta Wierzba,

Journal of Inherited Metabolic Disease

2010

31

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk,

European Journal of Medical Genetics

2006

29

Twelve novel<i>JAG1</i>gene mutations in polish Alagille syndrome patients

Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser,

Human Mutation

2005

26

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

Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz,

Frontiers in Pediatrics

2020

25

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

Christina Hellerud, Maciej Adamowicz, Dorota Jurkiewicz,

Molecular Genetics and Metabolism

2003

18

Antibiotic Susceptibility of <i>Escherichia coli dnaK</i> and <i>dnaJ</i> Mutants

Krystyna I. Wolska, Edyta Bugajska, Dorota Jurkiewicz,

Microbial Drug Resistance

2000

18

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

Ewa Popowska, Ewa Pronicka, Anna Sułek,

PubMed

2001

18

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