Concepedia

Dorota Jurkiewicz

DJ

18

Publications

432

Citations

14

H-Index

2000

Active since

Affiliations

Children's Memorial Health Institute(Current)

Medical University of Warsaw

Children's Hospital of Philadelphia

University of Pennsylvania

Mossakowski Medical Research Institute, Polish Academy of Sciences

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

ORCID

Top concepts

Publications per year

2000–2021

18

Publications

18

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

Melissa Leyva‐Vega, Jennifer Gerfen, Brian Thiel et al. · American Journal of Medical Genetics Part A · 2010 · 76 citations · Full text

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 et al. · American Journal of Medical Genetics Part A · 2016 · 47 citations

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Dorota Jurkiewicz, Dorota Gliwicz, Elżbieta Ciara et al. · Journal of Applied Genetics · 2014 · 33 citations · Full text

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 et al. · Journal of Inherited Metabolic Disease · 2010 · 31 citations

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

Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk et al. · European Journal of Medical Genetics · 2006 · 29 citations

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